New Syndromes
2000 First Publications
Genetic Center
Filatov's Child Clinical Hospital © 2001-2004
Vladimir Solonichenko MD, Clinical Geneticist,©
E-mail:
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06.16.2004
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REFERENCES
- FIRST PUBLICATIONS 2000 |
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| 1 |
Adderson EE, Viskochil DH, Carey JC,
Shigeoka AO, Christenson JC, Bohnsack JF, Hill HR. Growth failure, intracranial
calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: A
genetic syndrome? Am J Med Genet 2000 Nov 6;95(1):17-20 |
Abstract |
Synopsis |
| 2 |
Aguirre-Aquino BI, Rogers DG, Traboulsi
EI. A patient with de morsier and duane syndromes. J AAPOS 2000 Aug;4(4):243-5
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Abstract |
Synopsis |
| 3 |
Al-Gazali LI, Bakir M, Hamid ZM, Nair
DK, Haas D, Amirlak I, Rushdi A. A new syndrome of optic nerve colobomas and
renal abnormalities associated with arthrogryposis multiplex.Clin Dysmorphol 2000
Jul;9(3):183-188 |
Abstract |
Synopsis |
| 4 |
Al-Gazali LI; Bakir M; Hamid ZM; Nath
R; Haas D. Congenital bowing of the long bones associated with camptodactyly,
talipes equinovarus and agenesis of the corpus callosum. Clin Dysmorphol 2000
Apr;9(2):93-97 |
Abstract |
Synopsis |
| 5 |
Al-Mayouf SM, Majeed M, Hugosson C,
Bahabri S. New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis
(NAO) syndrome. Am J Med Genet 2000 Jul 3;93(1):5-10 |
Abstract |
Synopsis |
| 6 |
Amiel, ]eanne; Faivre, L; Le Merrer,
M.; Munnich, A.; Lyonnet, S.; Cormier-Daire, V. Dysmorphism, variable
overgrowth, normal bone age and severe developmental delay: a 'Sotos-like' syndrome?
Eur J Hum Genet 2000, v.8.Supplement 1,P-133 |
Abstract |
Synopsis |
| 7 |
Aslan Yakup, Erol Erduran, Necmettin
Kutlu. Autosomal recessive multiple pterygium syndrome: A new variant? Am.
J. Med. Genet. 93(3):194-197, 2000 |
Abstract |
Synopsis |
| 8 |
Bacino Carlos A, David W. Stockton,
Roberta A. Sierra, Heidi A. Heilstedt, Raymond Lewandowski, Ignatia B. Van den
Veyver. Terminal osseous dysplasia and pigmentary defects: Clinical characterization
of a novel male lethal X-linked syndrome. Am. J. Med. Genet. 94(2):102-112, 2000 |
Abstract |
Synopsis |
| 9 |
Basel D; Goldblatt J. Tibial aplasia--VACTERL
association, a new syndrome? Clin Dysmorphol 2000 Jul;9(3):205-208 |
Abstract |
Synopsis |
| 10 |
Berg J; Grace E; Teik KW; Hammond H;
Tidman M; Fitz Patrick D. Bullous ichthyosiform erythroderma, developmental
delay, aortic and pulmonary stenosis in association with a FRA12A. Clin Dysmorphol
2000 Jul;9(3):213-219 |
Abstract |
Synopsis |
| 11 |
Blair EM, Walsh S, Oldridge M, Wall
SA, Wilkie AO. Newly recognised craniosynostosis syndrome that does not map
to known disease loci. Am J Med Genet 2000 Nov 6;95(1):4-9 |
Abstract |
Synopsis |
| 12 |
Blonchet, Patricia; Roubertie, A; Lefort,
G; Le Merrer, M; Sarda, P. A new MCA/MR syndrome with severe spondyloepiphyseal
dysplasia and cerebral anomalie. Eur J Hum Genet 2000, v.8.Supplement 1, P-256
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Abstract |
Synopsis |
| 13 |
Bork K, Barnstedt SE, Koch P, Traupe
H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet
2000 Jul 15;356(9225):213-7 |
Abstract |
Synopsis |
| 14 |
Boute, Odile; Devisme, L; Moerman, A.;
Coeslier, A.; Robert, Y.; Manouvrier, S. Familial neuronal migration disorder
and coarse face. Eur J Hum Genet 2000, v.8.Supplement 1, P-137 |
Abstract |
Synopsis |
| 15 |
Breuning M.H., A.P. Oranje, R.A.Th.M.
Langemeijer, S.E.R. Hovius, A.F.M. Diepstraten, J.C. den Hollander, N. Baumgartner,
J.R. Dwek, A. Sommer, H. Toriello. Recurrent digital fibroma, focal dermal
hypoplasia, and limb malformations. Am. J. Med. Genet. 94:91-101, 2000 |
Abstract |
Synopsis |
| 16 |
Cabezas David A., Rachel Slaugh, Fatima
Abidi, J Fernando Arena, Roger E Stevenson, Charles E Schwartz, Herbert A Lubs.
A new X linked mental retardation (XLMR) syndrome with short stature, small testes,
muscle wasting, and tremor localises to Xq24-q25. J Med Genet 2000;37:658-662
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Abstract |
Synopsis |
| 17 |
Cefle, Kivanc; Ozturk, S.; Palanduz,
S.; Tanakol, R.; Turkmen, D.; Kir, N.; ВауШ, С.; Boz Erten,; A/if Koran, M.; Tascioglu,
C.; Serakinci, N. Two sisters with hemifacial microsomia associated with possible
polyglandular autoimmune syndrome type I. Eur J Hum Genet 2000, v.8.Supplement
1, P-151 |
Abstract |
Synopsis |
| 18 |
Cincinnati P; Midi P; Rutiloni C. Klippel-Feil
syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. Clin
Dysmorphol 2000 Oct;9(4):291-292 |
Abstract |
Synopsis |
| 19 |
Claes S, K. Devriendt, G. Van Goethem,
L. Roelen, J. Meireleire, P. Raeymaekers, J.J. Cassiman, J.P. Fryns. Novel
syndromic form of X-linked complicated spastic paraplegia. Am. J. Med. Genet.
94(1):1-4, 2000 |
Abstract |
Synopsis |
| 20 |
Devriendt K; Keymolen K; Roelen L;
Van Goethem G; Meireleire J; Fryns JP. Severe short stature, hyperphalangy
of the index fingers, mental retardation and facial dysmorphism. Clin Dysmorphol
2000 Apr;9(2):111-114 |
Abstract |
Synopsis |
| 21 |
Elliott AM, Teebi AS. New autosomal
dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism
syndrome.Clin Dysmorphol 2000 Jan 9:1 15-9 |
Abstract |
Synopsis |
| 22 |
Farooqi IS, Jones MK, Evans M, O'Rahilly
S, Hodges JR.Triple H syndrome: a novel autoimmune endocrinopathy characterized
by dysfunction of the hippocampus, hair follicle, and hypothalamic-pituitary adrenal
axis. J Clin Endocrinol Metab 2000 Aug;85(8):2644-8 |
Abstract |
Synopsis |
| 23 |
Fryns JP, Aftimos S. New MR/MCA
syndrome with distinct facial appearance and general habitus, broad and webbed
neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes.
J Med Genet 2000 Jun;37(6):460-2 (letter) |
Abstract |
Synopsis |
| 24 |
Gabrielli O; Carloni I; Cordiali R;
Bruschi B; Rocchi E; Coppa GV. Peculiar facies, obesity, cleft lip and palate,
growth hormone deficiency and mental retardation: a new syndrome? Clin Dysmorphol
2000 Apr;9(2):153-154 |
Abstract |
Synopsis |
| 25 |
Glorieux FH, Rauch F, Plotkin H, Ward
L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ. Type
V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res
2000 Sep;15(9):1650-8 |
Abstract |
Synopsis |
| 26 |
Gobello Tommaso, Cinzia Mazzanti, Giovanna
Zambruno, Luca Massimo Chinni, Rudolf Happle. New Type of Epidermal Nevus
Syndrome. Dermatology 201:1:2000, 51-53 |
Abstract |
Synopsis |
| 27 |
Gohlich-Ratmann G, Lackner A, Schaper
J, Voit T, Gillessen-Kaesbach G. Syndrome of gingival hypertrophy, hirsutism,
mental retardation and brachymetacarpia in two sisters: specific entity or variant
of a described condition? Am J Med Genet 2000 Nov 27;95(3):241-6 |
Abstract |
Synopsis |
| 28 |
Guerreiro MM; Andermann E; Guerrini
R; Dobyns WB; Kuzniecky R; Silver K; Van Bogaert P; Gillain C; David P; Ambrosetto
G; Rosati A; Bartolomei F; Parmeggiani A; Paetau R; Salonen O; Ignatius J; Borgatti
R; Zucca C; Bastos AC; Palmini A; Fernandes W; Montenegro MA; Cendes F; Andermann
F. Familial perisylvian polymicrogyria: a new familial syndrome of cortical
maldevelopment. Ann Neurol 2000 Jul;48(1):39-48 |
Abstract |
Synopsis |
| 29 |
Guion-Almeida ML; Richieri-Costa A.
Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting,
and preaxial polydactyly syndrome. Clin Dysmorphol 2000 Oct;9(4):297-299 |
Abstract |
Synopsis |
| 30 |
Gul D, Oktenli C, Saglam M, Erdem U.
Craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly, and
skeletal changes: a possible new autosomal recessive disorder. Clin Dysmorphol
2000 Jan;9(1):61-2 |
Abstract |
Synopsis |
| 31 |
Gul D; Odabas E; Kutlu M. Oculocutaneous
albinism and reduced bone density in two sibs: a new autosomal recessive syndrome?
Clin Dysmorphol 2000 Oct;9(4):295-296 |
Abstract |
Synopsis |
| 32 |
Haftel LT, Lev D, Barash V, Gutman
A, Bujanover Y, Lerman-Sagie T. Familial mitochondrial intestinal pseudo-obstruction
and neurogenic bladder. J Child Neurol 2000 Jun;15(6):386-9 |
Abstract |
Synopsis |
| 33 |
Hilhorst-Hofstee Y; Shah N; Atherton
D; Harper JI; Milla P; Winter RM. Radial aplasia, poikiloderma and auto-immune
enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome? Clin
Dysmorphol 2000 Apr;9(2):79-85 |
Abstract |
Synopsis |
| 34 |
Holinski-Feder Elke, Edwin Reyniers,
Sabine Uhrig, Astrid Golla, Jan Wauters, Peter Kroisel, Paul Bossuyt, Imma Rost,
Kerry Jedele, Hannelore Zierler, Sieglinde Schwab, Dieter Wildenauer, Michael
R. Speicher, Patrick J. Willems, Thomas Meitinger, and R. Frank Kooy. Familial
Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation,
t(3;16)(q29;p13.3) Am. J. Hum. Genet., 66:16-25, 2000 |
Abstract |
Synopsis |
| 35 |
Intiso D, Cioffi R, Di Viesti P, Simone
P, Tonali P. Bilateral periventricular nodular heterotopia associated with
coeliac disease and palatoschisis. Ital J Neurol Sci 1998 Jun;19(3):180-3 |
Abstract |
Synopsis |
| 36 |
Jarrah Nadim, Hatem El-Shanti, Ahmad
Khier , Fatima Nouri Obeida, Azmi Haddidi, Kamel Ajlouni. Familial disorder
of sex determination in seven individuals from three related sibships. Eur J Pediatrics,
2000,159(12):912-918 |
Abstract |
Synopsis |
| 37 |
Kajantie E; Pirinen S; Tommiska V;
Kaitila I. A syndrome with midface asymmetry, defective modelling of the skeleton,
catch-up growth and truncal obesity. Clin Dysmorphol 2000 Oct;9(4):259-264 |
Abstract |
Synopsis |
| 38 |
Kirel B, Kural N, Yakut A, Adapinar
B. Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia
and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?
Turk J Pediatr 2000 Apr-Jun;42(2):171-6 |
Abstract |
Synopsis |
| 39 |
Knight-Jones E, Knight S, Heussler
H, Regan R, Flint J, Martin K. Neurodevelopmental profile of a new dysmorphic
syndrome associated with submicroscopic partial deletion of 1p36.3. Dev Med Child
Neurol 2000 Mar;42(3):201-6 |
Abstract |
Synopsis |
| 40 |
Krause MH, Bonnekoh B, Weisshaar E,
Gollnick H. Coincidence of multiple, disseminated, tardive-eruptive blue nevi
with cutis marmorata teleangiectatica congenita. Dermatology 2000 200:2 134-8
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Abstract |
Synopsis |
| 41 |
Kuhnle U, Bartsch O, Werner W, Schuster
T. Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies,
and developmental delay: definition of a new clinical syndrome. Pediatr Surg Int
2000;16(5-6):396-9 |
Abstract |
Synopsis |
| 42 |
Leblanc R. Familial adenomatous
polyposis and benign intracranial tumors: a new variant of Gardner's syndrome.
Can J Neurol Sci 2000 Nov;27(4):341-6 |
Abstract |
Synopsis |
| 43 |
LEV Dorit, MIRIAM YANOOV, SHLOMO WEINTRAUB,
TALLY LERMAN-SAGIE. Progressive neurological deterioration in a child with
distal arthrogryposis and whistling face. J Med Genet 2000;37:231-233 (Letter) |
Abstract |
Synopsis |
| 44 |
Loeys, Bart; Schrander-Stumpel, C.;
De Paepe, A. Persistent ductus Botalli associated with ascending aorticaneurysm
and clubfoot in two families: a new autosomal dominant entity? Eur J Hum Genet
2000, v.8.Supplement 1, |
Abstract |
Synopsis |
| 45 |
Mahbubul Huq AH, Nigro MA. XY sex
reversal and a nonprogressive neurologic disorder: a new syndrome? Pediatr Neurol
2000 Oct 1;23(4):357-360 |
Abstract |
Synopsis |
| 46 |
Manouvrier S, Moerman A, Coeslier A,
Devisme L, Boute O, Le Merrer M. Radioulnar synostosis, radial ray abnormalities,
and severe malformations in the male: a new X-linked dominant multiple congenital
anomalies syndrome? Am J Med Genet 2000 Feb 28;90(5):351-5 |
Abstract |
Synopsis |
| 47 |
Marcano Ana Carolina Braga, Antonio
Richieri-Costa. A Newly Recognized Autosomal Dominant Mandibulofacial Dysostosis
(Bauru Type): Report on a Brazilian Family. The Brazilian Journal of Dysmorphology
and Speech-Hearing Disorders, vol.1, №2 |
Abstract |
Synopsis |
| 48 |
Malchoff CD, Sarfarazi M, Tendler B,
Forouhar F, Whalen G, Joshi V, Arnold A, Malchoff DM. Papillary thyroid carcinoma
associated with papillary renal neoplasia: genetic linkage analysis of a distinct
heritable tumor syndrome. J Clin Endocrinol Metab 2000 May;85(5):1758-64 |
Abstract |
Synopsis |
| 49 |
Martin DM, Probst FJ, Camper SA, Petty
EM. Characterisation and genetic mapping of a new X linked deafness syndrome.
J Med Genet 2000 Nov;37(11):836-841 |
Abstract |
Synopsis |
| 50 |
Megarbane A; Melki I; Souraty N; Gerbaka
J; El Ghouzzi V; Bonaventure J; Mornand A; Loiselet J. Overlap between Baller-Gerold
and Rothmund-Thomson syndrome. Clin Dysmorphol 2000 Oct;9(4):303-305 |
Abstract |
Synopsis |
| 51 |
Mehndiratta MM, Agarwal P, Sharma A,
Agarwal S. Dandy Walker Syndrome Associated with Unusual Congenital Anomalies.Indian
Pediatr 2000 Aug 7;37(8):896-898 |
Abstract |
Synopsis |
| 52 |
Montgomery TL; Wyllie J; Oley C.
Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion.
Clin Dysmorphol 2000 Oct;9(4):235-239 |
Abstract |
Synopsis |
| 53 |
Nanke Y, Kotake S, Akama H, Usuda S,
Tateishi M, Yamagata H, Kamatani N. Multiple dislocations of distal interphalangeal
joints associated with interstitial pneumonia and Sjogren's syndrome: a possible
new complex. J Rheumatol 2000 Jul;27(7):1798-800 (ynn@murayama.hosp.go.jp) |
Abstract |
Synopsis |
| 54 |
Ng D, Stratakis CA. Premature adrenal
cortical dysfunction in mandibuloacral dysplasia: A progeroid-like syndrome. Am
J Med Genet 2000 Nov 27;95(3):293-5 |
Abstract |
Synopsis |
| 55 |
Nye Jeffrey S., Erin A. Hayes, Michael
Amendola, Daleik Vaughn , Joel Charrow, David G. Mclone, Marcy C. Speer, Walter
E. Nance, Arti Pandya. Myelocystocele-cloacal exstrophy in a pedigree with
a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary
disturbances, and spinal anomalies. Teratology 61:165-171, 2000. |
Abstract |
Synopsis |
| 56 |
Ogur, Gonul; Laleye, A.; Delneste,
D. Association of osteopetrosis, short stature, optical atrophy and female
sterility: a new variant of dominant osteopetrosis or a new syndrome. Eur J Hum
Genet 2000, v.8.Supplement 1, |
Abstract |
Synopsis |
| 57 |
Olander Erika, Judith Stamberg, Lisa
Steinberg, Eric A. Wulfsberg. Third Prader-Willi syndrome phenotype due to
maternal uniparental disomy 15 with mosaic trisomy 15. Am. J. Med. Genet. 93(3):215-218,
2000 |
Abstract |
Synopsis |
| 58 |
Orme L, Gorlick R, Meyers PA, Athanasian
E, Huvos AG. Osteosarcoma associated with absent thumbs: a report of two cases.
J Pediatr Hematol Oncol 2000 Jan-Feb;22(1):73-7 |
Abstract |
Synopsis |
| 59 |
Ozden,; Duzcan, F.; Sahiner, T.; Bayromoglu,
I. Autosomal dominant progressive optic atrophy and hearing loss in three
generations of a family. Eur J Hum Genet 2000, v.8.Supplement 1, P-249 |
Abstract |
Synopsis |
| 60 |
Ozkinay F, Cogulu O, Akil I, Gunduz
C, Ozkinay C. Fronto-facio-nasal dysplasia in two sisters with additional
findings. Acta Paediatr 2000 Sep;89(9):1145-7 |
Abstract |
Synopsis |
| 61 |
Pavone L, Rizzo R, Pavone P, Curatolo
P, Dobyns WB. Diffuse polymicrogyria associated with congenital hydrocephalus,
craniosynostosis, severe mental retardation, and minor facial and genital anomalies.
J Child Neurol 2000 Jul;15(7):493-5 |
Abstract |
Synopsis |
| 62 |
Pavone P, Parano E, Polizzi A, Trifiletti
RR. Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia:
association or new syndrome? Am J Med Genet 2000 Jun 5 92(4):278-80 |
Abstract |
Synopsis |
| 63 |
Plomp AS; Reardon W; Benton S; Taylor
D; Larcher VF; Sundrum R; Winter RM. An unknown combination of infantile spasms,
retinal lesions, facial dysmorphism and limb abnormalities. Clin Dysmorphol 2000
Jul;9(3):189-192 |
Abstract |
Synopsis |
| 64 |
Potgieter Steph, Gert Matthijs, Paul
De Cock, Jean-Pierre Fryns. Preaxial polydactyly type 1 and severe language
deficit in maternal uniparental disomy of chromosome 7 Eur J Pediatr,2000,159(12):929-929
(correspondence) |
Abstract |
Synopsis |
| 65 |
Priolo M; Lerone M; Rosaia L; Calcagno
EP; Sadeghi AK; Ghezzi F; Ravazzolo R; Silengo M. Question mark ears, temporo-mandibular
joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity?
Clin Dysmorphol 2000 Oct;9(4):277-280 |
Abstract |
Synopsis |
| 66 |
Quadrelli R, Vaglio A, Reyno S, Lemes
A, Salazar D, Lachman RS, Wilcox WR. Uruguay facio-cardio-musculo-skeletal
syndrome: A novel X-linked recessive disorder. Am J Med Genet 2000 Nov 27;95(3):247-65
|
Abstract |
Synopsis |
| 67 |
Ramanan AV; Hussain K; Hird M; Gaspar
HB. Short limbed skeletal dysplasia associated with combined immunodeficiency
and congenital subglottic stenosis: a new constellation of features. Clin Dysmorphol
2000 Jul;9(3):173-176 |
Abstract |
Synopsis |
| 68 |
Ramos-Arroyo MA, Valiente A, Rodriguez-Toral
E, Alonso AM, Moreno S, Weaver DD. Familial choanal atresia with maxillary
hypoplasia, prognathism, and hypodontia. Am J Med Genet 2000 Nov 27;95(3):237-40
|
Abstract |
Synopsis |
| 69 |
Revy P, Busslinger M, Tashiro K, Arenzana
F, Pillet P, Fischer A, Durandy A. A syndrome involving intrauterine growth
retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and
progressive pancytopenia. Pediatrics 2000 Mar;105(3):E39 |
Abstract |
Synopsis |
| 70 |
Romeo MG; Nicoletti MC; Saporito A;
Cilauro S; Romeo DM; Smilari P. Caudal regression syndrome and annular pancreas:
a rare association. Clin Dysmorphol 2000 Oct;9(4):293-294 |
Abstract |
Synopsis |
| 71 |
Rossiter JP, Khalifa MM, Nag S.
Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus,
anophthalmia, cleft lip and palate and severe mental retardation: a possible new
syndrome. Acta Neuropathol (Berl) 2000 Jun;99(6):685-90 |
Abstract |
Synopsis |
| 72 |
Ruggieri M, Rizzo R, Pavone P, Baieli
S, Sorge G, Happle R Temporal Triangular Alopecia in Association With Mental
Retardation and Epilepsy in a Mother and Daughter.Arch Dermatol 2000 Mar;136(3):426-7
(letter) |
Abstract |
Synopsis |
| 73 |
Sacha M. P. Koch, Shrawan Kumar, Cor
W. R. J. Cremers. A Family With Autosomal Dominant Inherited Dysmorphic Small
Auricles, Lip Pits, and Congenital Conductive Hearing Impairment. Arch Otolaryngol
Head Neck Surg. 2000;126:639-644 |
Abstract |
Synopsis |
| 74 |
Savarirayan Ravi, Valérie Cormier-Daire,
Cynthia J. Curry, Marcus B. Nashelsky, Valerie Rappaport, David L. Rimoin, Ralph
S. Lachman. New mesomelic dysplasia with absent fibulae and triangular tibiae.
Am. J. Med. Genet. 94(1):59-63, 2000 |
Abstract |
Synopsis |
| 75 |
Schauder S, Hanefeld F, Noske UM, Zoll
B. Depigmented hypertrichosis following Blaschko's lines associated with cerebral
and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome
from the group of epidermal naevus syndromes? Br J Dermatol 2000 Jun;142(6):1204-1207
|
Abstract |
Synopsis |
| 76 |
Schneider EN, Bogdanow A, Goodrich JT,
Marion RW, Cohen MM Jr. Fronto-ocular syndrome: newly recognized trigonocephaly
syndrome. Am. J. Med. Genet. 93(2):89-93, 2000 |
Abstract |
Synopsis |
| 77 |
Semerci, Nur; Balcy, S.; Bebitoglu,
I.; Kacar, A.; Yuttagul, S. ;Ercakmak, S.; Ertoy, D.; Ozaltyn, F.An unusual
fetus with absence of thoracal, lumbal, sacral vertebrae and ribs, bilateral renal
agenesis, VSD, a sacralmeningomyelocele, imperforate anus, teratoma. Is it a new
entity? Eur J Hum Genet 2000, v.8.Supplement 1, P-105 |
Abstract |
Synopsis |
| 78 |
Shalev, Stavit ; Mazor Galia, M.G.;
Reich, R.D.; Shapira, S.Y. Zlotogora, ZJ. A congenital syndrome with developmental
delay and unusual inheritance. Eur J Hum Genet 2000, v.8.Supplement 1, |
Abstract |
Synopsis |
| 79 |
Shetty AK, Chatters R, Tilton AH, Lacassie
Y. Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula
associated with features of Rett syndrome.J Child Neurol 2000 Jan 15:1 61-3 |
Abstract |
Synopsis |
| 80 |
Shintaku M, Y. Uemura, I. Fujii, Y.
Ohtani, T. Miike, M. Tokunaga, A. Tsubura. Neuroaxonal leukodystrophy associated
with congenital cutis laxa: report of an autopsy case. Acta Neuropathologica,99(4):420-424,2000
|
Abstract |
Synopsis |
| 81 |
Smith A, Jauch A, Slater H, Robson L,
Sandanam T. Syndromal obesity due to paternal duplication 6(q24.3-q27). Am
J Med Genet 1999 May 21;84(2):125-31 |
Abstract |
Synopsis |
| 82 |
Stephan E, Ashoush R, Megarbane A,
Kassab R, Salem N, Loiselet J, Bouvagnet P. Autosomal dominant Mendelian midline
complex. Secundum atrial septal defect associated with cardiac and facial-thoracic
defects. A familial case. Arch Mal Coeur Vaiss 2000 May;93(5):641-7 [Article in
French] |
Abstract |
Synopsis |
| 83 |
Stewart H; Kerr B; Tomlin P; Stacey
D; Super M. Sibs with developmental delay, hirsutism and nail hypoplasia:
a new syndrome. Clin Dysmorphol 2000 Oct;9(4):241-246 |
Abstract |
Synopsis |
| 84 |
Stratakis CA, Lafferty A, Taymans SE,
Gafni RI, Meck JM, Blancato J. Anisomastia associated with interstitial duplication
of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital
anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization
and microsatellites to 16q13 (D16S419-D16S503). J Clin Endocrinol Metab 2000 Sep;85(9):3396-401
|
Abstract |
Synopsis |
| 85 |
Tentlera Dmitry , Peter Gustavsson,
Göran Elinder, Ole Eklöf, Laurie Gordon, Ariane Mandel, Niklas Dahl.
A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations,
and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome. J Med
Genet 2000;37:128-131 |
Abstract |
Synopsis |
| 86 |
Toutain, Annick; Moizard, M.P.; Hommet,
C. Spastic paraplegia, mental retardation and glaucoma in three siblings.
A rare probably autosomal recessive syndrome. Eur J Hum Genet 2000, v.8.Supplement
1, P-152 |
Abstract |
Synopsis |
| 87 |
Trevisan G, Pauluzzi P, Gatti A, Semeraro
A. Familial mastocytosis associated with neurosensory deafness. J Eur Acad
Dermatol Venereol 2000 Mar;14(2):119-22 |
Abstract |
Synopsis |
| 88 |
Van den Berg-Vos RM, Van den Berg LH,
Franssen H, Vermeulen M, Witkamp TD, Jansen GH, van Es HW, Kerkhoff H, Wokke JH.
Multifocal inflammatory demyelinating neuropathy: a distinct clinical entity?
Neurology 2000 Jan 11;54(1):26-32 |
Abstract |
Synopsis |
| 89 |
van Nesselrooij, Bernadette; Dorland,
L; Sinke, R.J.; Duran, M.; Beemen FA; Poll The, B.T. A novel X-linked mental
retardation syndrome with extrapyramidal system involvement and post-prandial
hyperaminoacidemia. Eur J Hum Genet 2000, v.8.Supplement 1, P-247 |
Abstract |
Synopsis |
| 90 |
Vélez A. and J.-C. Moreno.
Poland's syndrome and recessive X-linked ichthyosis in two brothers. Clinical
& Experimental Dermatology 25 (4), 308-311 |
Abstract |
Synopsis |
| 91 |
Verloes A; Lesenfants S. Agenesis
of the corpus callosum, camptodactyly and obesity. Clin Dysmorphol 2000 Apr;9(2):107-109
|
Abstract |
Synopsis |
| 92 |
Waters FM, Lloyd IC, Clayton-Smith
J. Apple peel atresia in association with bilateral colobomatous malformation
of the optic nerve heads, dysmorphic features, and learning disability - a new
syndrome? Ophthalmic Genet 2000 Jun;21(2):117-21 |
Abstract |
Synopsis |
| 93 |
Wheeler CE Jr; Carroll MA; Groben PA;
Briggaman RA; Prose NS; Davis DA. Autosomal dominantly inherited generalized
basaloid follicular hamartoma syndrome: report of a new disease in a north carolina
family. J Am Acad Dermatol 2000 Aug;43 Pt 1(2):189-206 |
Abstract |
Synopsis |
| 94 |
Witters I, Moerman P, Fryns JP.
Prenatal echographic diagnosis of laryngeal atresia as part of a multiple congenital
anomalies (MCA) syndrome. Genet Couns 2000;11(3):215-9 |
Abstract |
Synopsis |
| 95 |
Yuksel, Adnan; Seven, M.; Deviren,
A.; Cetinel, V.; Ozkilic, A.; Hacihanfioglu, S.; Ulutin, T.; Cenani, A.; Iscan,
M.Y. Two female siblings with pre- and postnatal growth retardation, Iris
Colobomata, spasticity, facial dysmorphism and dilated ventricles. Eur J Hum Genet
2000, v.8.Supplement 1, |
Abstract |
Synopsis |
| 96 |
Zonana J, Elder ME, Schneider LC, Orlow
SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM.
A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia
Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO).
Am J Hum Genet 2000 Dec;67(6):1555-1562 |
Abstract |
Synopsis |
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