Detalhe da pesquisa
1.
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
Genet Med
; 23(4): 645-652, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33244165
2.
Establishing or Excluding a Diagnosis of Fetal Valproate Spectrum Disorder is a Multi-layered Process.
Ir Med J
; 114(6): 382, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35863137
3.
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
Clin Genet
; 91(4): 576-588, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27761913
4.
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Clin Genet
; 84(6): 539-45, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23320472
5.
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
J Med Genet
; 49(2): 104-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22180640
6.
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
Nat Genet
; 8(1): 98-103, 1994 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-7987400
7.
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
Nat Genet
; 8(3): 269-74, 1994 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-7874169
8.
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.
Nat Genet
; 19(1): 70-3, 1998 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-9590293
9.
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
Nat Genet
; 9(2): 173-6, 1995 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-7719345
10.
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
Nat Genet
; 12(4): 421-3, 1996 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-8630497
11.
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.
Nat Genet
; 20(4): 358-61, 1998 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-9843207
12.
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
Nat Genet
; 21(3): 302-4, 1999 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-10080184
13.
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.
Hum Mutat
; 31(5): E1332-47, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20232352
14.
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
Am J Med Genet A
; 149A(3): 431-6, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19208381
15.
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.
J Med Genet
; 45(6): 346-54, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18178631
16.
Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
Nat Genet
; 17(1): 18-9, 1997 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-9288091
17.
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
J Med Genet
; 43(6): 541-4, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16299064
18.
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
J Med Genet
; 43(5): 451-6, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16183801
19.
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
J Med Genet
; 43(5): 401-5, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16443854
20.
Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.
Eur J Med Genet
; 49(2): 195-9, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16530716