Work Space for Clinical Geneticists

Реферат от 14 января 2008

Новости генетики от 21 апреля 2008

Genetic Center
Filatov's Child Clinical Hospital © 2001-2008
Vladimir Solonichenko MD, Clinical Geneticist,©
E-mail:

The most recent articles published online

May 09, 2008

Initial Posting: 1 May 2008 by syndromology@gmail.com

HUMAN GENETICS (General Aspects)

• DNA Damage Responses: Mechanisms and Roles in Human Disease: 2007 G.H.A. Clowes Memorial Award Lecture -- Kastan MB. - Mol. Cancer Res. 2008, 6(4): 517-524.
• Stem Cells: A Perspective on Oocytes -- OKTEM and OKTAY 1127 - Ann NY Acad Sci 2008, 1127(1): 20–26.
• Modern Andrology: From Semen Analysis to Postgenomic Studies of the Male Gametes -- PATRIZIO et al. - Ann NY Acad Sci 2008, 1127(1): 59–63.
• Genetic Predisposition, Nongenetic Risk Factors, and Coronary Infarct - Trichopoulou et al. - Arch Intern Med. 2008; 168(8):891-896.
• Response to Stenson et al on the review of general mutation databases -- George et al. - J Med Genet 2008; 45(5): 319-320 (PostScript)
• Development of gene therapy for blood disorders -- Nienhuis AW. - Blood 2008, 111(9): 4431-4444.
• A Malaria Fingerprint in the Human Genome? - Daily and Sabeti - NEJM 2008, 358(17):1855-1856 (Editorial)
• MicroRNomics: a newly emerging approach for disease biology -- Zhang C. - Physiol. Genomics 2008, 33(2): 139-147
• Last update: 9 May 2008. Apolipoprotein E genotype and memory in the sixth decade of life -- Schultz et al. - Neurology 2008, 70(192): 1771-1777.
• Association between APOE {varepsilon}2/{varepsilon}3/{varepsilon}4 polymorphism and disability severity in a national long-term care survey sample -- Kulminski et al. - Age and Ageing 2008, 37(3):288-293
• Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease -- Cloos et al. - Genes Dev. 2008, 22(9): 1115-1140.
• Scanning the human genome at kilobase resolution -- Chen et al. - Genome Res. 2008, 18(5): 751-762 (Methods)
• Comprehensive high-throughput arrays for relative methylation (CHARM) -- Irizarry et al. - Genome Res. 2008, 18(5): 780-790 (Methods)
• New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree -- Karafet et al. - Genome Res. 2008, 18(5): 830-838.
• A HapMap harvest of insights into the genetics of common disease - Manolio et al. - J Clin Invest. 2008; 118(5):1590-605.
• Advances in autism genetics: on the threshold of a new neurobiology - Abrahams and Geschwind - Nat Rev Genet. 2008; 9(5):341-55.
• Genetics of Anxiety Disorders - American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2008, Volume 148C, Issue 2 (Special Issue - Table of Contents)
• A meta-analysis of nonsense mutations causing human genetic disease - Mort et al. - Human Mutation. Published Online: 2 May 2008

DYSMORPHOLOGY.

Molecular Dysmorphology

• Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration -- Chen-Plotkin et al. - Hum. Mol. Genet. 2008, 17(10): 1349-1362
• Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma -- Dimaras et al. - Hum. Mol. Genet. 2008, 17(10): 1363-1372
• A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts -- Reamon-Buettner et al. - Hum. Mol. Genet. 2008, 17(10): 1397-1405
• Recent advances in the molecular pathology, cell biology and genetics of ciliopathies -- Adams et al. - J Med Genet 2008; 45(5): 257-267.
• We need a detailed phenome in the phenomenon of genetics and congenital heart disease -- Posch et al. - J Med Genet 2008; 45(5): 320 (PostScript)
• SIX2 and BMP4 Mutations Associate With Anomalous Kidney Development -- Weber et al. - J Am Soc Nephrol 2008, 19(5): 891-903.
• Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN) -- Kurian et al. - Neurology 2008, 70(18): 1623-1629.
• Genome Screen to Detect Linkage to Intracranial Aneurysm Susceptibility Genes: The Familial Intracranial Aneurysm (FIA) Study -- Foroud et al. - Stroke 2008; 39(5):1434-1440
• Wt1 negatively regulates {beta}-catenin signaling during testis development -- Chang et al. - Development 2008, 135(10): 1875-1885.
• Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia -- Walsh et al. - Science 2008, Vol. 320. no. 5875, pp. 539 - 543
• Epigenetic Regulation of Vascular Endothelial Gene Expression -- Matouk and Marsden - Circ Res. 2008; 102(8):873-887
• Reduced Amelogenin-MMP20 Interactions in Amelogenesis Imperfecta -- Tanimoto et al. - J Dent Res 2008, 87(5): 451-455.
• Gene expression analyses on embryonic external genitalia: identification of regulatory genes possibly involved in masculinization processes - Congenital Anomalies 2008, 48 (2): 63–67
• The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces - Fernandes and Hebert - Clinical Genetics 2008, 73 (5): 413–423
• Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis - Barbaro et al. - Clinical Genetics 2008, 73 (5): 453–464
• Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome - Abu et al. - The American Journal of Human Genetics, 01 May 2008
• Last update: 9 May 2008. SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development -- Kelberman et al. - J Clin Endocrinol Metab 2008, 93(5): 1865-1873
• Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally - Desir et al. - Am J Med Genet Part A. Published Online: 1 May 2008
• Craniosynostosis in a patient with a de novo 15q15-q22 deletion - Hiraki et al. - Am J Med Genet Part A. Published Online: 30 Apr 2008
• Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair -- Bauters et al., - Genome Res. published 7 May 2008
• Association of the GABRB3 Gene With Nonsyndromic Oral Clefts - Inoue et al. - Cleft Palate Craniofac J. 2008; 45(3):261-266
• Family-Based Association Study of the MTHFR Polymorphism C677T in Patients With Nonsyndromic Cleft Lip and Palate from Central Europe - Reutter et al. - Cleft Palate Craniofac J. 2008; 45(3):267-271
• Analysis of five single nucleotide polymorphisms in the ESR1 gene in cryptorchidism - Wang et al. - Birth Defects Research (Part A), 2008. Published Online: 1 May 2008
• Refinement of 2q and 7p loci in a large multiplex NTD family - Stamm et al. - Birth Defects Research (Part A), 2008. Published Online: 1 May 2008
• Genes, chromosomes and the development of testicular germ cell tumors of adolescents and adults - McIntyre et al. - Genes, Chromosomes and Cancer 2008, 47(7):547-557
• The human retinitis pigmentosa GTPase regulator gene variant database - Shu et al. - Human Mutation 2008, 29(5):605-608
• Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex - Stahl et al. - Human Mutation 2008, 29(5):709-717

Epidemiology of the Birth Defects

• Structural birth defects associated with omphalocele and gastroschisis, Hawaii, 1986–2001 - Forrester and Merz - Congenital Anomalies 2008, 48 (2): 87–91

Nonsyndromic Birth Defects

• Prevalence and Outcome of Congenital Heart Disease in Patients With Neural Tube Defect -- Koçak et al. - J Child Neurol 2008, 23(5): 526-530.
• Vesicoureteral Reflux -- Williams et al. - J Am Soc Nephrol 2008, 19(5): 847-862.
• Bilateral Hydrosalpinx in Adolescent Girls with Hirschsprung's Disease: Association of Two Rare Conditions -- Merlini et al. - American Journal of Roentgenology 2008, 190(5):W278-W282
• Hirschsprung Disease and Hypoganglionosis in Adults: Radiologic Findings and Differentiation -- Kim et al. - Radiology 2008, 247(2): 428-434
• Prolonged Neonatal Jaundice and the Diagnosis of Biliary Atresia: A Single-Center Analysis of Trends in Age at Diagnosis and Outcomes -- Wadhwani et al., - Pediatrics published 28 April 2008
• Thoracic Aortic Aneurysm: Reading the Enemy's Playbook - Elefteriades JA. - Curr Probl Cardiol. 2008; 33(5):203-77.
• Last update: 9 May 2008. National Emphysema Treatment Trial State of the Art: Genetics of Emphysema -- Hersh et al. - Proc Am Thorac Soc 2008, 5(4): 486-493.
• Update in Cystic Fibrosis 2007 -- Accurso FJ. - Am. J. Respir. Crit. Care Med. 2008; 177(10): 1058-1061
• Posterior urethral valves in three siblings: A case report and review of the literature - Schreuder et al. - Birth Defects Research (Part A), 2008, 82(4):232-235
• Seven-week embryo with gastroschisis, multiple anomalies, and physiologic hernia suggests early onset of gastroschisis - Byrne and Feldkamp - Birth Defects Research (Part A), 2008, 89(4): 236-238

SYNDROMOLOGY

Molecular Syndromology

• Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration -- Dufour et al. - Hum. Mol. Genet. 2008, 17(10): 1418-1426
• Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour -- Cerrato et al. - Hum. Mol. Genet. 2008, 17(10): 1427-1435
• Rett Syndrome: Recent Research Progress -- Percy AK. - J Child Neurol 2008, 23(5): 543-549.
• On BC1 RNA and the fragile X mental retardation protein -- Bagni C. - PNAS | April 29, 2008 | vol. 105 | no. 17 | E19 (Letter)
• A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family -- Fan et al. - J Med Genet 2008; 45(5): 303-308.
• Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome -- Chabrol et al. - J Med Genet 2008; 45(5): 314-318.
• A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a "Pseudodeletion" and Is Not Associated with the Fragile X Syndrome Phenotype -- Cecconi et al. - J Mol Diagn 2008, 10(3): 272-275
• Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome -- Tobin et al., - Proceedings of the National Academy of Sciences, Published online on April 28, 2008
• Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6 - Falik-Zaccai et al. - Am J Med Genet A. 2008 Apr 29 [Epub ahead of print]
• Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families - Zhang et al. - J Cancer Res Clin Oncol. 2008 Apr 30 [Epub ahead of print]
• A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations - Gennari et al. - Clin Endocrinol (Oxf). 2008 Apr 28 [Epub ahead of print]
• A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome - Milunsky et al. - Clinical Genetics 2008, 73 (5): 502–503
• Last update: 9 May 2008. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome -- Tobin et al. - PNAS | May 6, 2008 | vol. 105 | no. 18 | 6714-6719
• Loss of Tuberous Sclerosis Complex-2 Function and Activation of Mammalian Target of Rapamycin Signaling in Endometrial Carcinoma -- Lu et al. - Clin Cancer Res 2008, 14(9): 2543-2550
• Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation - Feller et al. - Am J Med Genet Part A 2008, 146A(10):1350-1353 (No Abstract)
• Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature - Coffee et al. - Am J Med Genet Part A 2008, 146A(10):1358-1367.
• Correlation between SPINK5 Gene Mutations and Clinical Manifestations in Netherton Syndrome Patients - Komatsu et al. - J Invest Dermatol. 2008; 128(5):1148-59.
• Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration - Cusco et al. - BMC Med Genet. 2008; 9: 27.
• Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA) - Hruska et al. - Human Mutation 2008, 29(5):567-583
• MID1 mutations in patients with X-linked Opitz G/BBB syndrome - Fontanella et al. - Human Mutation 2008, 29(5):584-589
• Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations - Fusco et al. - Human Mutation 2008, 29(5):595-604
• Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse) - Trochet et al. - Human Mutation 2008, 29(5):770
• The Mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A Syndrome) - Meyer et al. - Human Mutation 2008, 29(5):770
• Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence - Temtamy et al. - Human Mutation. Published Online: 2 May 2008
• Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation - Cretolle et al. - Human Mutation. Published Online: 30 Apr 2008
• Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele - Percesepe et al. - Prenatal Diagnosis 2008, 28(5):447-449 (Letter/ No Abstract)

Animal Models of Human Syndromes

• Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice -- Jugloff et al. - Hum. Mol. Genet. 2008, 17(10): 1386-1396
• Last update: 9 May 2008. Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology -- Matsumoto et al. - PNAS | May 6, 2008 | vol. 105 | no. 18 | 6720-6724
• Mutations in String/CDC25 inhibit cell cycle re-entry and neurodegeneration in a Drosophila model of Ataxia telangiectasia -- Rimkus et al. - Genes Dev. 2008, 22(9): 1205-1220.
• Pseudoxanthoma Elasticum: Oxidative Stress and Antioxidant Diet in a Mouse Model (Abcc6-//-) - Li et al. - J Invest Dermatol. 2008; 128(5):1160-1164

CHROMOSOMAL ANOMALIES

• Last update: 9 May 2008. Neuroimaging findings in children with rare or novel de novo chromosomal anomalies - Epstein et al. - Birth Defects Research (Part A), 2008, 82(4):200-210
• Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage - Franssen et al. - Prenatal Diagnosis 2008, 28(5):408-411

Chromosomal Syndromes: Well-Known Syndromes

• The Role of Color Cues in Facilitating Accurate and Rapid Location of Aided Symbols by Children With and Without Down Syndrome -- Wilkinson et al. - Am J Speech Lang Pathol 2008, 17(2): 179-193.
• Last update: 9 May 2008. Aortic Valve Disease in Turner Syndrome -- Sachdev et al. - J Am Coll Cardiol 2008, 51(19): 1904-1909.
• Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype - Swinkels et al. - Am J Med Genet Part A. Published Online: 1 May 2008
• Birth of a healthy boy after fertilization of cryopreserved oocytes with cryopreserved testicular spermatozoa from a man with nonmosaic Klinefelter syndrome - Greco et al. - Fertil Steril. 2008, 89(4):991.e5-991.e7
• Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome - Zeger et al. - J Pediatr. 2008; 152(5):716-22.
• Factors associated with malocclusions in children and adolescents with Down syndrome - Oliveira et al. - Am J Orthod Dentofacial Orthop. 2008; 133(4):489.e1-8.
• First trimester prenatal diagnosis of 13q-syndrome presenting with increased nuchal translucency, Dandy-Walker malformation and small parietal encephalocoele - Hindryckx et al. - Prenatal Diagnosis 2008, 28(5):445-446

Microdeletion-Microduplication syndromes

• Partial Trisomy of 7q: Case Report and Literature Review -- Scelsa et al. - J Child Neurol 2008, 23(5): 572-579.
• Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1) - Kroepfl et al. - Clinical Genetics 2008, 73 (5): 492–495
• Last update: 9 May 2008. High Prevalence of Central Adrenal Insufficiency in Patients with Prader-Willi Syndrome -- de Lind van Wijngaarden et al. - J Clin Endocrinol Metab 2008, 93(5): 1649-1654
• Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion -- Cuscó et al. - Genome Res. 2008, 18(5): 683-694.
• Two new cases of pure 1q terminal deletion presenting with brain malformations - Hiraki et al. - Am J Med Genet Part A 2008, 146A(10):1241-1247.
• Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation - Dubos et al. - Am J Med Genet Part A 2008, 146A(10):1267-1279.
• Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review - Blanc et al. - Am J Med Genet Part A 2008, 146A(10):1307-1311.
• Partial Xp11.23-p11.4 duplication with random X inactivation: Clinical report and molecular cytogenetic characterization - Monnot et al. - Am J Med Genet Part A 2008, 146A(10):1325-1329.
• Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome - Buysse et al. - Am J Med Genet Part A 2008, 146A(10):1330-1334.
• Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion - Queralt et al. - Am J Med Genet Part A 2008, 146A(10):1335-1340.
• 12q12 deletion: A new patient contributing to genotype-phenotype correlation - Failla et al. - Am J Med Genet Part A 2008, 146A(10):1354-1357 (No Abstract)
• Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism - Shimizu et al. - Am J Med Genet Part A. Published Online: 30 Apr 2008
• 12q Interstitial Deletion With Bilateral Cleft Lip and Palate: Case Report and Literature Review - Yamanishi et al. - Cleft Palate Craniofac J. 2008; 45(3):325-328
• Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome - Pober et al. - J Clin Invest. 2008; 118(5):1606-1615.
• Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia - Brunet et al. - Behav Brain Funct. 2008; 4:10.
• Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development - Lybaek et al. - Eur J Hum Genet advance online publication, May 7, 2008
• Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster - Buiting et al. - Human Mutation. Published Online: 2 May 2008

CLINICAL SYNDROMOLOGY

• Risk Stratification in Cancer Predisposition Syndromes: Lessons Learned from Novel Molecular Developments in Li-Fraumeni Syndrome -- Tabori and Malkin - Cancer Res. 2008, 68(7): 2053-2057.
• New Incidence, Prevalence, and Survival of Aicardi Syndrome From 408 Cases -- Kroner et al. - J Child Neurol 2008, 23(5): 531-535.
• Prevalence of Cysts in Seminal Tract and Abnormal Semen Parameters in Patients with Autosomal Dominant Polycystic Kidney Disease -- Torra et al. - Clin J Am Soc Nephrol 2008, 3(3): 790-793.
• Cystic Fibrosis. Third edition. Edited by Margaret Hodson, Duncan Geddes, and Andrew Bush. 503 pp., illustrated. London, Hodder Arnold, 2007 [ NEJM 2008, 358(17):1873-74. Book Review ]
• Cardiac involvement in muscular dystrophies -- Beynon and Ray - QJM 2008, 101(5):337-344
• Vascular Malformation and Hemangiomatosis Syndromes: Spectrum of Imaging Manifestations -- Elsayes et al. - American Journal of Roentgenology 2008, 190(5):1291-1299
• Inherited endocrinopathies: An update - Lewis and Yeh - Mol Genet Metab. 2008 Apr 21 [Epub ahead of print]
• Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis - Nousbeck et al. - The American Journal of Human Genetics, 24 April 2008
• Last update: 9 May 2008. Management of 239 Patients with Hypoplastic Left Heart Syndrome and Related Malformations from 1993 to 2007 -- Jacobs et al. - Ann Thorac Surg 2008; 85(5):1691-1697.
• Omphalocele and gastroschisis and associated malformations - Stoll et al. - Am J Med Genet Part A 2008, 146A(10):1280-1285.
• Oculomotor abnormalities in a patient with fragile X-associated tremor/ataxia syndrome - Sulkowski et al. - Journal of American Association for Pediatric Ophthalmology and Strabismus 2008, 12(2):195-196
• Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia - Brasseur et al. - Pediatr Blood Cancer 2008; 50(5):1058-1060.
• Epstein Barr virus induced lymphoma in a child with IPEX syndrome - Lucas et al. - Pediatr Blood Cancer 2008; 50(5):1056-1057.
• Neuromuscular and mitochondrial disorders: what is relevant to the anaesthesiologist? - Driessen JJ. - Curr Opin Anaesthesiol. 2008; 21(3):350-5.
• The fragile X continuum: new advances and perspectives - Cornish et al. - J Intellect Disabil Res. 2008 Apr 28 [Epub ahead of print]
• Fragile X and reproduction - Martin and Arici - Curr Opin Obstet Gynecol. 2008; 20(3):216-20.

Dysmetabolic Syndromes

• Citrullinemia Type I - Thoene JG. - GeneReviews
• Glycogen Storage Disease Type II (Pompe Disease) - Tinkle and Leslie - GeneReviews
• Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis -- Wood et al. - Blood 2008, 111(9): 4456-4462.
• Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study - Sims et al. - Clinical Genetics 2008, 73 (5): 430–440
• Last update: 9 May 2008. Generalized Glucocorticoid Resistance: Clinical Aspects, Molecular Mechanisms, and Implications of a Rare Genetic Disorder -- Charmandari et al. - J Clin Endocrinol Metab 2008, 93(5): 1563-1572
• Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria -- Koopman et al. - Am J Physiol Cell Physiol 2008, 294(5): C1124-C1132
• Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB -- Ficko-Blean et al. - PNAS | May 6, 2008 | vol. 105 | no. 18 | 6560-6565
• Intrauterine Immunoglobulin in the Prevention of Neonatal Hemochromatosis -- Brodsky D. - Neoreviews 2008, 9(5): e218-e222.
• Growth charts for patients affected with Morquio A disease - Montano et al. - Am J Med Genet Part A 2008, 146A(10):1286-1295.
• Enzyme Replacement Therapy for Mucopolysaccharidoses: Opinions of Patients and Families - Coman et al. - J Pediatr. 2008; 152(5):723-727.

Dyshistogenetic Syndromes

• Loeys-Dietz Syndrome - Loeys and Dietz - GeneReviews
• Chondrodysplasia Punctata 1, X-Linked Recessive - Braverman et al. - GeneReviews
• Lynch Syndrome in Women Less Than 50 Years of Age With Endometrial Cancer -- Matthews et al. - Obstet Gynecol 2008, 111(5): 1161-1166.
• Determinants of Quality of Life in Marfan Syndrome -- Fusar-Poli et al. - Psychosomatics 2008, 49(3): 243-248
• Characterization of Autism in Young Children With Tuberous Sclerosis Complex -- Jeste et al. - J Child Neurol 2008, 23(5): 520-525.
• Marfanoid hypermobility syndrome and skeletal abnormalities in a rare case of torsion of wandering spleen -- SODHI et al. - Br J Radiol 2008, 81(965): e145-e148.
• Neuroimaging of Tuberous Sclerosis: Spectrum of Pathologic Findings and Frontiers in Imaging -- Kalantari and Salamon - American Journal of Roentgenology 2008, 190(5):W304-W309
• Early Diagnosis of Fibrodysplasia Ossificans Progressiva -- Kaplan et al. - Pediatrics 2008; 121(5): e1295-e1300
• Delayed diagnosis of epidermal nevus syndrome associated with substantial brain malformations: a case report and review of the literature - Paley and Englich - Cutis 2008; 81(3):274-6.
• Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1 - Vidal et al. - J Eur Acad Dermatol Venereol. 2008 Apr 24 [Epub ahead of print]
• von Hippel-Lindau (VHL) Disease: An Update on the Clinico-pathologic and Genetic Aspects - Shehata et al. - Adv Anat Pathol. 2008; 15(3):165-171.
• Last update: 9 May 2008. Successful Elbow Contracture Release Secondary to Melorheostosis. A Case Report -- Gong et al. - J Bone Joint Surg Am. 2008; 90(5):1106-1111.
• Aortic dissection in a young man with Loeys-Dietz syndrome -- Melenovsky et al. - J Thorac Cardiovasc Surg 2008; 135(5):1174-1175.
• Severe Marfan syndrome due to FBN1 exon deletions - Blyth et al. - Am J Med Genet Part A 2008, 146A(10):1320-1324.
• The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure - Giunta et al. - Am J Med Genet Part A 2008, 146A(10):1341-1346 (No Abstract)
• Craniofacial and temporal bone CT findings in cleidocranial dysplasia - Gonzales et al. - Pediatr Radiol. 2008 Apr 30 [Epub ahead of print]
• Surgically Assisted Rapid Maxillary Expansion in Two Cases of Osteopathia Striata With Cranial Sclerosis - Koudstaal et al. - Cleft Palate Craniofac J. 2008; 45(3):337-342

Malformation Syndromes

• Isolated Absence of the Moro Reflex in a Baby With CHARGE Syndrome Could Reflect Vestibular Abnormalities -- Bloomfield et al. - J Child Neurol 2008, 23(5): 561-563.
• The Greig cephalopolysyndactyly syndrome - Leslie G Biesecker - Orphanet Journal of Rare Diseases 2008, 3:10
• Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations - Revencu et al. - Hum Mutat. 2008 Apr 29 [Epub ahead of print]
• Large congenital melanocytic nevi presenting with lissencephaly with an absent corpus callosum - Tarano et al. - Congenital Anomalies 2008, 48 (2): 97–100
• Last update: 9 May 2008. Autosomal Dominant Polycystic Kidney Disease Is Associated With an Increased Prevalence of Radiographic Bronchiectasis -- Driscoll et al. - Chest 2008, 133(5): 1181–1188.
• Electroconvulsive Therapy of a Depressed Patient with Septo-Optic Dysplasia -- Ni et al. - J Neuropsychiatry Clin Neurosci 2008, 20(2): 242-243 (Letter)
• The clinical spectrum of homozygous HOXA1 mutations - Bosley et al. - Am J Med Genet Part A 2008, 146A(10):1235-1240.
• Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association - Castori et al. - Am J Med Genet Part A 2008, 146A(10):1259-1266.
• Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome - Reardon and Temple - Am J Med Genet Part A 2008, 146A(10):1296-1298.
• Schinzel-Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria - Lehman et al. - Am J Med Genet Part A 2008, 146A(10):1299-1306.
• Tracheomalacia in siblings with otopalatodigital syndrome - Johnson et al. - Am J Med Genet Part A 2008, 146A(10):1347-1349 (No Abstract)
• Clinical delineation of Giuffrè-Tsukahara syndrome: Another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance - Gaspar et al. - Am J Med Genet Part A. Published Online: 30 Apr 2008
• Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients - Lavin et al. - Pediatr Blood Cancer. 2008 May 2 [Epub ahead of print]
• Bilateral orbito-palpebral cysts in a case of cryptophthalmos associated with Fraser syndrome - Mocan et al. - Journal of American Association for Pediatric Ophthalmology and Strabismus 2008, 12(2):210-211
• Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation - Yoshida et al. - Pediatr Blood Cancer 2008; 50(5):1274-1276.
• Use of an endoscopic ultrasound probe for the evaluation of the Müllerian rudiments in patients with Rokitansky syndrome - Fedele et al. - Fertil Steril. 2008, 89(4):981-983
• Möbius Syndrome: A Case With Oral Involvement - Scarpelli et al. - Cleft Palate Craniofac J. 2008; 45(3):319-324
• Anesthetic considerations in the child with Costello syndrome: risks of cardiac arrest upon induction of anesthesia - Shukry et al. - Pediatric Anesthesia 2008, 18 (6):567–568 (Correspondence)

NEW SYNDROMES

• Last update: 9 May 2008. Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome - Dumars et al. - J AAPOS. 2008 May 1 [Epub ahead of print]
• Ophthalmic features of ataxia telangiectasia–like disorder - Khan et al. - Journal of American Association for Pediatric Ophthalmology and Strabismus 2008, 12(2):186-189
• Anophthalmia, Cleft Lip/Palate, Absent Vomer Bone, Nystagmus, and Mental-Motor Retardation: A New Syndrome or Fryns“Anophthalmia-Plus” Syndrome? - Özçelik et al. - Cleft Palate Craniofac J. 2008; 45(3):256-260

PRENATAL SYNDROMOLOGY

• Last update: 9 May 2008. Sotos syndrome: Antenatal presentation - Thomas and Lemire - Am J Med Genet Part A 2008, 146A(10):1312-1313.
• Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata - Tysoe et al. - Prenatal Diagnosis 2008, 28(5):384-388
• Fetal genital anomalies: an aid to diagnosis - Pajkrt et al. - Prenatal Diagnosis 2008, 28(5):389-398
• Pregnancy outcome following prenatal diagnosis of sex chromosome abnormalities in Mainland China - Liao and Li - Prenatal Diagnosis 2008, 28(5):443-444
• Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1pter) and partial trisomy 10q (10q25.1qter) - Chen et al. - Prenatal Diagnosis 2008, 28(5):450-453 (Letter/No Abstract)
• Prenatal diagnosis of Pallister-Killian syndrome in two fetuses with increased nuchal translucency - Kim et al. - Prenatal Diagnosis 2008, 28(5):454-456 (Letter/No Abstracts)
• Correlation between ultrasound and pathological examination in a prenatal diagnosis of Cri du Chat syndrome associated with partial trisomy 17q - Coedier et al. - Prenatal Diagnosis 2008, 28(5):463-465 (Letter/No Abstract)

TERATOLOGY

• Newborn Hearing Screening and Detection of Congenital Cytomegalovirus Infection -- Stehel et al. - Pediatrics 2008; 121(5): 970-975

Molecular Teratology

• Last update: 9 May 2008. Fetal ethanol exposure activates protein kinase a and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly - Aoto et al. - Birth Defects Research (Part A), 2008, 82(4):224-231

Experimental Teratology

• Last update: 9 May 2008. Fetal alcohol syndrome (FAS) in C57BL/6 mice detected through proteomics screening of the amniotic fluid - Datta et al. - Birth Defects Research (Part A), 2008, 82(4):177-186

Clinical Teratology

• Duration of antidepressant use during pregnancy and risk of major congenital malformations -- Ramos et al. - Br J Psychiatry 2008, 192(5): 344-350.
• Last update: 9 May 2008. Mortality rates in subjects with fetal alcohol spectrum disorders and their siblings - Burd et al. - Birth Defects Research (Part A), 2008, 82(4):217-223
• Maternal urinary tract infections and selected cardiovascular malformations - Cleves et al. - Birth Defects Research (Part A), 2008. Published Online: 1 May 2008

GENETIC PREVENTION

Prenatal Screening

• Last update: 9 May 2008. First trimester screening for Down syndrome in rhesus negative women - Muhcu et al. - Prenatal Diagnosis 2008, 28(5):404-407
• Analysis of multiple loci can increase reliability of detection of fetal Y-chromosome DNA in maternal plasma - Wagner et al. - Prenatal Diagnosis 2008, 28(5):412-416
• Anxiety levels in women undergoing prenatal maternal serum screening for Down syndrome: the effect of a fast reporting system by mobile phone short-message service - Cheng et al. - Prenatal Diagnosis 2008, 28(5):417-421
• Maternal serum ADAM12s in the late first trimester of pregnancies with Trisomy 21 - Spencer et al. - Prenatal Diagnosis 2008, 28(5):422-424
• Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses - Prenatal Diagnosis 2008, 28(5):425-433

Neonatal Screening

• Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening -- Hsu et al. - Pediatrics 2008; 121(5): e1108-e1114

Genetic Testing

• Minors and informed consent in carrier testing: a survey of European clinical geneticists -- Borry et al. - J Med Ethics 2008; 34(5): 370-374.
• Last update: 9 May 2008. Genetic screening in 2,710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic tests - Riccaboni et al. - Fertil Steril. 2008, 89(4):800-808

Preimplantation Diagnosis

• Preimplantation testing for chromosome aneuploidy -- Ogilvie CM. - The Obstetrician & Gynaecologist 2008, 10(2): 88-92
• Last update: 9 May 2008. Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome - Liss et al. - Fertil Steril. 2008 Apr 26 [Epub ahead of print]
• Preimplantation genetic screening: “established” and ready for prime time? - Gleicher et al. - Fertil Steril. 2008, 89(4):780-788 (Editors)
• Vitrification of preimplantation genetically diagnosed human blastocysts and its contribution to the cumulative ongoing pregnancy rate per cycle by using a closed device - Escriba et al. - Fertil Steril. 2008, 89(4):840-846
• Patient willingness to participate in a clinical trial with preimplantation genetic diagnosis - Shahine et al. - Fertil Steril. 2008, 89(4):879-884
• Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations - McArthur et al. - Prenatal Diagnosis 2008, 28(5):434-442