SYNDROMOLOGY

• The Williams-Beuren Syndrome—A Window into Genetic Variants Leading to the Development of Cardiovascular Disease - Adams and Schmaier - PLoS Genet. 2012; 8(2): e1002479 (Open Access)

Molecular Syndromology

• Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome - Seebohm et al. - FASEB 2012, 26(2): 513-522
• Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts
• A Single-Base Substitution in the Seed Region of miR-184 Causes EDICT Syndrome - Iliff et al. - IOVS 2012, 53(1): 348-353
• Implications for genotype–phenotype predictions in Townes–Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature - Miller et al. - Am J Med Genet (Part A) 2012, 158A(3): 533-540
• R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations - Richer et al. - Am J Med Genet (Part A) 2012, 158A(3): 664-668
• Characterization of a novel KRAS mutation identified in Noonan syndrome - Razzaque et al. - Am J Med Genet (Part A) 2012, 158A(3): 524-532
• Novel Genetic Mutation in the Background of Carney Complex - Halászlaki et al. - Pathol Oncol Res. 2012 Feb 2. [Epub ahead of print]
• Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features - Yoneda et al. - J Hum Genet. 2012 Feb 2.
• Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with Fragile X syndrome - Hoeffer et al. - Genes Brain Behav. 2012 Jan 23.
• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium - Lee et al. - Nature Genetics 2012, 44(2): 193–199 (2012)
• Mutations in EZH2 Cause Weaver Syndrome - Gibson et al. - Am J Hum Genet. 2012, 90(1): 110-118
• Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin - Huppke et al. - Am J Hum Genet. 2012, 90(1): 61-68
• Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus - Mitchell et al. - Am J Hum Genet. 2012, 90(1): 69-75
• Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome - Kalay et al. - Am J Hum Genet. 2012, 90(1): 76-85
• Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome - Lederer et al. - Am J Hum Genet. 2012, 90(1): 119-124
• A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome - Caputo et al. - Am J Hum Genet. 2012, 90(1): 161-169
• CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin - Pauli et al. - Clinical Genetics 2012, 81(3): 234-239
• X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5 - Demosthenous et al. - Clinical Genetics 2012, 81(3): 240-248
• Structures of Usher Syndrome 1 Proteins and Their Complexes - Pan and Zhang - Physiology 2012, 27(2): 25-42
• Mitochondrial dysfunction in ataxia-telangiectasia - Yasmine A. Valentin-Vega et al. - Blood 2012, 119(6): 1490-1500
• Tuberin and PRAS40 are anti-apoptotic gatekeepers during early human amniotic fluid stem-cell differentiation - Christiane Fuchs et al. - Hum. Mol. Genet. (2012) 21(5): 1049-1061
• Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy - Agatha Schlüter et al. - Hum. Mol. Genet. (2012) 21(5): 1062-1077
• The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis - Zalli et al. - Hum. Mol. Genet. (2012) 21(5): 1155-1171 (Free)
• Fanconi Anemia Complementation Group A (FANCA) Protein Has Intrinsic Affinity for Nucleic Acids with Preference for Single-stranded Forms - Yuan et al. - J. Biol. Chem. 2012, 287(7): 4800-4807.
• Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review - Magoulas et al. - Hum Pathol. 2012 Feb 1. [Epub ahead of print]
• Double heterozygous mutations of MITF and PAX3 result in Waardenburg Syndrome with increased penetrance in pigmentary defects - Yang et al. - Clin Genet. 2012 Feb 9.
• Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia - Raivio et al. - J Clin Endocrinol Metab. 2012 Feb 8.
• C4ST-1|[sol]|CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome - Klüppel et al. - Eur J Hum Genet. 2012 Feb 8.
• Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D - Pauli et al. - Am J Med Genet (Part A) 2012, 158A(3): 652-658
• Copy Number Variations on Chromosome 4q26–27 Are Associated with Cantu Syndrome - Kurban et al. - Dermatology 2012 Feb 3.
• Array CGH on unstimulated blood does not detect all cases of Pallister–Killian syndrome: A skin biopsy should remain the diagnostic gold standard - Hodge et al. - Am J Med Genet (Part A) 2012, 158A(3): 669-673
• The COL7A1 mutation database - Wertheim-Tysarowska et al. - Human Mutation 2012, 33(2): 327-331
• Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta - Martínez-Glez et al. - Human Mutation 2012, 33(2): 327-331
• VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans - Slavotinek et al. - Human Mutation 2012, 33(2): 364-368
• Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss - Baumann et al. - Am J Hum Genet 2012, 90(2): 201-216
• Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome - Campeau et al. - Am J Hum Genet 2012, 90(2): 282-289
• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - Hood et al. - Am J Hum Genet 2012, 90(2): 308-313
• Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome - Mayr et al. - Am J Hum Genet 2012, 90(2): 314-320
• RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome - Blaydon et al. - Am J Hum Genet 2012, 90(2): 340-346
• Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy - Ostergaard et al. - Am J Hum Genet 2012, 90(2): 356-362
• DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation - Jones et al. - Am J Hum Genet 2012, 90(2): 363-368
• Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly - Lines et al. - Am J Hum Genet 2012, 90(2): 369-377
• Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome - Bowman et al. - Eur J Hum Genet advance online publication, February 8, 2012
• UPDATED 20 Feb 2012. Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP - Messing et al. - Arch Neurol. 2012; 69(2): 208-214.
• New developments in genetic diagnosis: implications for the craniofacial surgeon - Hing et al. - J Craniofac Surg. 2012; 23(1): 212-6.
• Schwenter et al. - Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation - J Gastroenterol. 2012 Feb 14. [Epub ahead of print]
• Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29 - Chabchoub et al. - Dermatology. 2012 Feb 7. [Epub ahead of print]
• Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction - Diana Braunholz et al. - Eur J Hum Genet 2012, 20(3): 271-276
• Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations - Virginie Jacquemin et al. - Eur J Hum Genet 2012, 20(3): 305-312
• TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype - Patel et al. - Eur J Hum Genet advance online publication, February 15, 2012
• Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis - Sonja A de Munnik et al. - Eur J Hum Genet advance online publication, February 15, 2012
• A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient - Setijowati et al. - Eur J Med Genet 2012, 55(1): 17-21
• IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features - Youngs et al. - Eur J Med Genet 2012, 55(1): 32-36 (Free)
• Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro) - Yuca et al. - Eur J Med Genet 2012, 55(1): 37-42 (Free)
• Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: Could biallelic loss of conserved, non-coding elements lead to a phenotype? - Makrythanasis et al. - Eur J Med Genet 2012, 55(1): 63-66 (Free)
• Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene - Fernández et al - Am J Med Genet (Part A), Article first published online: 17 FEB 2012
• Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database - Bower et al. - Human Mutation 2012, 33(3): 457-466
• Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex - Hoogeveen-Westerveld et al. - Human Mutation 2012, 33(3): 476-479
• Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip - Thiel et al. - Human Mutation 2012, 33(3): 485-487
• Non-USH2A mutations in USH2 patients - Besnard et al. - Human Mutation 2012, 33(3): 504-510
• Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype–phenotype study - Verhagen et al. - Human Mutation 2012, 33(3): 561-571

Animal Models of Human Syndromes

• Impaired function of Fanconi anemia type C-deficient macrophages - Liu et al. - J Leukoc Biol 2012, 91(2): 333-340
• A Zebrafish Model of Axenfeld-Rieger Syndrome Reveals That pitx2 Regulation by Retinoic Acid Is Essential for Ocular and Craniofacial Development - Brenda L Bohnsack et al. - IOVS 2012, 53(1): 7-22
• Generation of an Inbred Miniature Pig Model of Retinitis Pigmentosa - Ross et al. - IOVS 2012, 53(1): 501-507
• TUDCA Slows Retinal Degeneration in Two Different Mouse Models of Retinitis Pigmentosa and Prevents Obesity in Bardet-Biedl Syndrome Type 1 Mice - Drack et al. - IOVS 2012, 53(1): 100-106
• Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome - Samaco et al. - Nature Genetics 2012, 44(2): 206–211
• Studies on Axenfeld–Rieger syndrome patients and mice reveal Foxc1 role in corneal neovascularization - Francois and Ramchandran - -PNAS 2012. 109(6): 1818-1819
• Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa - Beltran et al. - PNAS 2012, 109(6): 2132-2137
• Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neurons - Sterky et al. - Hum. Mol. Genet. (2012) 21(5): 1078-1089
• Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome - Victoria Campuzano et al. - PLoS Genet. 2012; 8(2): e1002458 (Open Access)
• UPDATED 20 Feb 2012. Modeling mitochondrial dysfunctions in the brain: from mice to men - Breuer et al. - Journal of Inherited Metabolic Disease 2012, 35(2): 193-210

CHROMOSOMAL ANOMALIES

• Meiotic Origins of Maternal Age-Related Aneuploidy - Teresa Chiang et al. - Biol Reprod 2012, 86(1): 1-7
• Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages - Behjati et al. - Arch Med Sci. 2011; 7(2):321-5 (Free)
• Chromosome microarray in Australia: A guide for paediatricians - Palmer et al. - J Paediatr Child Health. 2012; 48(2): E59-67.
• UPDATED 20 Feb 2012. Array comparative genomic hybridization in male infertility - Stouffs et al. - Hum. Reprod. (2012) 27(3): 921-929
• Advances in Whole-Genome Genetic Testing: From Chromosomes to Microarrays - Patrisia L Crotwell and H. Eugene Hoyme - Curr Probl Pediatr Adolesc Health Care. 2012; 42(3): 47-73.
• Solving the Puzzle: Case Examples of Array Comparative Genomic Hybridization as a Tool to End the Diagnostic Odyssey - Amelia R Mroch et al. - Curr Probl Pediatr Adolesc Health Care. 2012; 42(3): 47-73.
• Causes and consequences of aneuploidy in cancer - Gordon et al. - Nature Reviews Genetics 2012, 13(3): 189-203

Chromosomal Disorders: Well-Known Syndromes

• Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability - Margarit et al. - Am J Med Genet (Part A) 2012, 158A(3): 611-616
• A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype - Evers et al. - Am J Med Genet (Part A) 2012, 158A(3): 680-684
• Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2–q34.3 - Xu - et al. - Am J Med Genet (Part A) 2012, 158A(3): 635-640
• Abnormal Myelination in Ring Chromosome 18 Syndrome - Benini et al. - J Child Neurol. 2012 Jan 30.
• C677T and A1298C Polymorphisms of MTHFR Gene and Their Relation to Homocysteine Levels in Turner Syndrome - Oliveira et al. - - Genet Test Mol Biomarkers. 2012 Jan 27. [Epub ahead of print]
• An initial evaluation of the social communication questionnaire for the assessment of autism spectrum disorders in children with Down syndrome - Magyar et al. - J Dev Behav Pediatr. 2012; 33(2):134-45.
• UPDATED 20 Feb 2012. Intronic RET gene variants in Down syndrome–associated Hirschsprung disease in an African population - Moore SW and Monique G. Zaahl - J Pediatr Surg. 2012; 47(2): 299-302.
• Call for change in prenatal counseling for Down syndrome - McCabe et al. - Am J Med Genet (Part A) 2012, 158A(3): 482-484

Microdeletion-Microduplication syndromes

• Thrombocytopenia Absent Radius Syndrome - Helga V Toriello - GeneReviews
• Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome - Sacharow et al. - Am J Med Genet (Part A) 2012, 158A(3): 547-552
• Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies - Chen et al. - Am J Med Genet (Part A) 2012, 158A(3): 685-688
• Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformations - Agergaard et al. - Am J Med Genet (Part A) 2012, 158A(3): 509-513
• Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication - Pope et al. - Am J Med Genet (Part A) 2012, 158A(3): 641-647
• The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population-based study - Agergaard et al. - Am J Med Genet (Part A) 2012, 158A(3): 498-508
• Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism - Koolen et al. - Eur J Hum Genet. 2012 Feb 1.
• 3p Interstitial Deletion: Novel Case Report and Review - Andreea Cristina Ţuţulan et al. - CuniţăJ Child Neurol. 2012 Jan 30. [Epub ahead of print]
• Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism - Koolen et al. - Eur J Hum Genet advance online publication, February 1, 2012
• A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism - Yu et al. - Clinical Genetics 2012, 81(3): 257-264
• Alteration of the Circadian Clock in Children with Smith-Magenis Syndrome - Marta Novakova et al. - JCEM 2012, 97(2): E312-E318
• Medullary thyroid carcinoma and 2q37 deletion in a patient with nevoid basal cell carcinoma syndrome: Clinical description and genetic analysis - Coca–Pelaz et al. - Head Neck 2012, Feb 9.
• Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes - Rosenfeld et al. - Eur J Hum Genet. 2012 Feb 8.
• A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin - Fonseca et al. - Am J Med Genet (Part A) 2012, 158A(3): 689-693
• Third case of 8q23.3-q24.13 deletion in a patient with Langer–Giedion syndrome phenotype without TRPS1 gene deletion - Pereza et al. - Am J Med Genet (Part A) 2012, 158A(3): 659-663
• UPDATED 20 Feb 2012. Novel Proximal 14q Deletion: Clinical and Diffusion Tensor Imaging Tractography Findings in a Patient with Lissencephaly, Agenesis of the Corpus Callosum, and Septo-Optic Dysplasia - Bravo et al. - Am J Neuroradiol 2012, 33(2): E16-E18
• NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype - Moles et al. - Genet Med. 2012 Jan 12.
• Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes - Kim et al. - Eur J Hum Genet 2012, 20(3): 283-290
• Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent[quest] - Nathalie Delphin et al. - Eur J Hum Genet 2012, 20(3): 352-356
• BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome - Breckpot et al. - Eur J Med Genet 2012, 55(1): 12-16
• Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment - Ostergaard et al. - Eur J Med Genet 2012, 55(1): 22-26 (Free)
• Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: Expansion of phenotypic spectrum - Zaki et al. - Eur J Med Genet 2012, 55(1): 43-48 (Free)
• A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12 - Bartsch et al. - Eur J Med Genet 2012, 55(1): 49-55 (Free)
• 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features - Noh et al. - Eur J Med Genet 2012, 55(1): 59-62 (Free)
• A de novo 8q22.2-24.3 duplication in a patient with mild phenotype - Concolino et al. - Eur J Med Genet 2012, 55(1): 67-70 (Free)
• Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype - Jezela-Stanek et al - Am J Med Genet (Part A), Article first published online: 17 FEB 2012

CLINICAL SYNDROMOLOGY

• Genetic Causes of Macroglossia: Diagnostic Approach - Prada et al. - Pediatrics 2012; 129(2): e431-e437
• Approach to the Genetic Evaluation of the Child with Autism - Helga V. Toriello - Pediatr Clin North Am. 2012; 59(1): 113-28.
• Profiles of Receptive and Expressive Language Abilities in Males with Comorbid Fragile X Syndrome and Autism - McDuffie et al. - Am J Intellect Dev Disabil. 2012; 117(1):18-32 (Free)
• Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood - Smith et al. - Am J Intellect Dev Disabil. 2012; 117(1): 1-17.
• Isolated and syndromic forms of congenital anosmia - Karstensen and Tommerup - Clinical Genetics 2012, 81(3): 210-215
• Muscle-Bone Characteristics in Children with Prader-Willi Syndrome - Edouard et al. - JCEM 2012, 97(2): E275-E281
• Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl - Tsuburaya et al. - Am J Med Genet (Part A) 2012, 158A(3): 674-677
• Autistic regression in a child with Silver–Russell Syndrome and maternal UPD 7 - Vardi et al. - European Journal of Paediatric Neurology 2012, 16(1): 95-98
• UPDATED 20 Feb 2012. DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - Christopher J Klein - GeneReviews
• Stiff-Man Syndrome and Variants: Clinical Course, Treatments, and Outcomes - McKeon et al. - Arch Neurol. 2012; 69(2):230-238. 69 (2): 230
• Rare hereditary autoinflammatory disorders: Towards an understanding of critical in vivo inflammatory pathways - Kanazawa N. - J Dermatol Sci. 2012 Jan 18. [Epub ahead of print]
• Generalized Lichen Nitidus in Russell-Silver Syndrome - KANAI et al. - Pediatr Dermatol. 2012 Feb 14.
• Hereditary Ataxia Overview - Bird TD. - GeneReviews
• Clinical utility gene card for: acrodermatitis enteropathica - Küry et al. - Eur J Hum Genet 2012, 20(3): Free
• Systematic search for neutropenia should be part of the first screening in patients with poikiloderma - Juliette Piard et al. - Eur J Med Genet 2012, 55(1): 8-11 (Free)
• Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome) - Thompson et al. - Am J Med Genet (Part A) 2012, 158A(3): 553-558
• Further characterization of Shwachman–Diamond syndrome: Psychological functioning and quality of life in adult and young patients - Perobelli et al. - Am J Med Genet (Part A) 2012, 158A(3): 567-573

Dysmetabolic Syndromes

• A Review of α1-Antitrypsin Deficiency - Stoller and Aboussouan - Am. J. Respir. Crit. Care Med. 2012; 185(3): 246-259.
• Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria - Gucev et al. - - Prilozi. 2011; 32(2):187-98.
• Mitochondrial disease and epilepsy - RAHMAN et al. - Dev Med Child Neurol. 2012 Jan 28.
• GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed - SMITH et al. - Developmental Medicine & Child Neurology 2012, 54(2): 176-182
• Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene - Ferri et al. - Clinical Genetics 2012, 81(3): 224-233
• X-Linked Hypophosphatemia - Mary D Ruppe - GeneReviews
• Gaucher disease and the synucleinopathies: refining the relationship - Tessa N Campbell and Choy FYM - Orphanet Journal of Rare Diseases 2012, 7:12 (Open Access) -
• Endocrine manifestations related to inherited metabolic diseases in adults - Marie-Christine Vantyghem et al. - Orphanet Journal of Rare Diseases 2012, 7:11 (Open Access)
• Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry -- Lucia et al. - J Neurol Neurosurg Psychiatry 2012; 83(3): 322-328
• UPDATED 20 Feb 2012. Type III glycogen storage disease mimicking hypertrophic cardiomyopathy - Vera Maria Cury Salemi et al. - Eur Heart J Cardiovasc Imaging (2012) 13(2): 197
• Attenuated mucopolysaccharidosis: are you missing this debilitating condition? - Christina Lampe - Rheumatology (2012) 51(3): 401-402
• Fabry disease, enzyme replacement therapy and the significance of antibody responses - Deegan PB. - Journal of Inherited Metabolic Disease 2012, 35(2): 227-243
• Pregnancy and its management in women with GSD type III - a single centre experience - Ramachandran et al. - Journal of Inherited Metabolic Disease 2012, 35(2): 245-251
• Hearing loss in patients with mucopolysaccharidosis II: Data from HOS – the Hunter Outcome Survey - Keilmann et al. - Journal of Inherited Metabolic Disease 2012, 35(2): 343-353
• Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients - Clarke et al. - Journal of Inherited Metabolic Disease 2012, 35(2): 355-362
• Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease - Fellgiebel et al. - Journal of Inherited Metabolic Disease 2012, 35(2): 363-367
• Clinical utility gene card for: Adrenoleukodystrophy - Krasemann et al. - Eur J Hum Genet 2012, 20(3) Free

Dyshistogenetic Syndromes

• Comparison of aortic root replacement in patients with Marfan syndrome - Bernhardt et al. - Eur J Cardiothorac Surg (2011) 40(5): 1052-1057 (Free)
• Giant liposarcoma of the esophagus with Li-Fraumeni-like syndrome - Sui et al. - Eur J Cardiothorac Surg (2011) 40(5): 1253-1255 (Free)
• The vascular aneurysms of Ehlers–Danlos syndrome type IV - Moon et al., - Eur Heart J (2012) 33(3): 415
• Abnormal Achromatic and Chromatic Contrast Sensitivity in Neurofibromatosis Type 1 - Maria Jose Ribeiro et al. - IOVS 2012, 53(1): 287-293
• Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry -- Song et al. 143 (2): 282 -- The Journal of Thoracic and Cardiovascular Surgery - Song et al. - J Thorac Cardiovasc Surg 2012; 143(2): 282-286.
• The neurologic findings in Taybi–Linder syndrome (MOPD I/III): Case report and review of the literature - Pierce et al. - Am J Med Genet (Part A) 2012, 158A(3): 606-610
• Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: Report of two patients - Saito et al. - Am J Med Genet (Part A) 2012, 158A(3): 630-634
• Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers–Danlos syndrome - de Leeuw et al. - Am J Med Genet (Part A) 2012, 158A(3): 626-629
• The importance of advanced parental age in the origin of neurofibromatosis type 1 - Snajderova et al. - Am J Med Genet (Part A) 2012, 158A(3): 519-523
• Lynch syndrome - epidemiology, clinical features, molecular genetics, screening, therapy - Schneider et al. - Z Gastroenterol. 2012; 50(2):217-25 [Article in German]
• Genetic syndromes associated with renal cell carcinoma - a review - Azeem et al. - Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2011; 155(3):231-8.
• The genetics of dyskeratosis congenita - Mason and Monica Bessler - Cancer Genet. 2011; 204(12): 635-45.
• Identification of Cancer Patients with Lynch Syndrome: Clinically Significant Discordances and Problems in Tissue-Based Mismatch Repair Testing - Angela N Bartley et al. - Cancer Prev Res 2012, 5(2): 320-327
• Carney Complex with Adrenal Cortical Carcinoma - Morin et al. - JCEM 2012, 97(2): E202-E206
• Loss of Enteroendocrine Cells in Autoimmune-Polyendocrine-Candidiasis-Ectodermal-Dystrophy (APECED) Syndrome with Gastrointestinal Dysfunction - Posovszky et al/ - JCEM 2012, 97(2): E292-E300
• Potential Effects of Alendronate on Fibroblast Growth Factor 23 Levels and Effective Control of Hypercalciuria in an Adult with Jansen's Metaphyseal Chondrodysplasia - Laura Onuchic et al. - J Clin Endocrinol Metab. 2012 Jan 25.
• Unidentified bright objects in neurofibromatosis type 1: Conventional MRI in the follow-up and correlation of microstructural lesions on diffusion tensor images - European Journal of Paediatric Neurology 2012, 16(1): 42-47
• UPDATED 20 Feb 2012. Chediak-Higashi Syndrome - Introne et al. - GeneReviews
• Achondroplasia - Richard M Pauli - GeneReviews
• Surgical Management of Vestibular Schwannomas and Hearing Rehabilitation in Neurofibromatosis Type 2 - Tysome et al. - Otol Neurotol. 2012 Feb 10. [Epub ahead of print]
• Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome - Steinbusch et al. - Clin Genet. 2012 Feb 15.
• Annuloaortic ectasia in a 16 year-old boy with Loeys–Dietz syndrome - Bong Oh Ma et al. - Heart Lung Circ. 2012 Feb 8. [Epub ahead of print]
• Alagille syndrome: pathogenesis, diagnosis and management - Turnpenny and Ellard - Eur J Hum Genet 2012, 20(3): 251-257 (Free)

Malformation Syndromes

• CHARGE Syndrome - Lalani et al. - GeneReviews
• Adams–Oliver syndrome and portal hypertension: Fortuitous association or common mechanism? - Silva et al. - Am J Med Genet (Part A) 2012, 158A(3): 648-651
• Ophthalmic features of CHARGE syndrome with CHD7 mutations - Nishina et al. - Am J Med Genet (Part A) 2012, 158A(3): 514-518
• Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome - Yagihashi et al. - Congenital Anomalies, Accepted manuscript online: 3 FEB 2012
• Venous malformations of the temporal bone are a common feature in CHARGE syndrome - Friedmann et al. - Laryngoscope. 2012 Feb 7.
• Multiple pterygium syndrome: mimicking the findings of Turner syndrome - Güven and Kirmizibekmez - Pediatr Endocrinol Metab. 2011; 24(11-12): 1089-93.
• A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes - Caglayan et al. - Genet Couns. 2011; 22(4):341-6.
• UPDATED 20 Feb 2012. Axenfeld-Rieger syndrome: new perspectives -- Chang et al. - Br J Ophthalmol 2012; 96(3): 318-322
• Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia - Juric-Sekhar et al. - Acta Neuropathol. 2012 Feb 14. [Epub ahead of print]
• A different type of branchial fistula as part of a branchiootorenal syndrome - Can et al. - J Pediatr Surg 2012, 47(2): 404-407
• NSDHL-Related Disorders - Christèle du Souich et al. - GeneReviews

NEW SYNDROMES

• An inherited disorder with splenomegaly, cytopenias, and vision loss - Tantravahi et al. - Am J Med Genet (Part A) 2012, 158A(3): 475-481.
• Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation - Hoeijmakers et al. - Brain. 2012 Jan 26. [Epub ahead of print]
• UPDATED 20 Feb 2012. Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation - Hoeijmakers et al. - Brain (2012) 135(2): 345-358
• Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: Another case of Yunis-Varón syndrome or report of a new entity - Reutter et al. - Eur J Med Genet 2012, 55(1): 27-31 (Free)

PRENATAL SYNDROMOLOGY

• Non-immune hydrops fetalis: A short review of etiology and pathophysiology - Bellini et al. - Am J Med Genet (Part A) 2012, 158A(3): 597-605
• First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur - Abdelhedi et al. - Am J Med Genet (Part A) 2012, 158A(3): 617-621
• Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell– Silver syndrome - Petit et al. - Clinical Genetics 2012, 81(3): 265-271
• UPDATED 20 Feb 2012. The Use of In Utero MR Imaging to Delineate Developmental Brain Abnormalities in Multifetal Pregnancies - GriffitAm J Neuroradiol 2012, 33(2): 359-365hs et al. -
• Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59Mb in 10p15.3–p14 and 4.22Mb in 10q26.3 - Christopoulou et al. - Eur J Med Genet 2012, 55(1): 75-79 (Free)

TERATOLOGY

Clinical Teratology

• Congenital rubella syndrome and left pulmonary artery sling - Martinez-Quintana et al. - Eur Respir J 2012, 39(2): 495-496
• Maternal Asthma Medication Use and the Risk of Selected Birth Defects - Lin et al. - Pediatrics 2012; 129(2): e317-e324
• Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services - Hoeltzenbein et al. - Am J Med Genet (Part A) 2012, 158A(3): 588-596

GENETIC PREVENTION