Detalhe da pesquisa
1.
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Ann Oncol
; 33(12): 1318-1327, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36122798
2.
Jewish cultural and religious factors and uptake of population-based BRCA testing across denominations: a cohort study.
BJOG
; 129(6): 959-968, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758513
3.
Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.
Br J Dermatol
; 182(3): 698-707, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31141158
4.
Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term outcomes.
BJOG
; 127(3): 364-375, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31507061
5.
Attitude towards and factors affecting uptake of population-based BRCA testing in the Ashkenazi Jewish population: a cohort study.
BJOG
; 126(6): 784-794, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30767407
6.
Phenotypic spectrum associated with de novo mutations in QRICH1 gene.
Clin Genet
; 93(2): 286-292, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28692176
7.
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Clin Genet
; 88(3): 224-33, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131214
8.
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Clin Genet
; 87(3): 244-51, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24635570
9.
Mapping a gene for Noonan syndrome to the long arm of chromosome 12.
Nat Genet
; 8(4): 357-60, 1994 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-7894486
10.
Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.
Front Genet
; 14: 1136339, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37323685
11.
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.
J Med Genet
; 39(7): 478-83, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12114478
12.
The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan's syndrome.
J Clin Endocrinol Metab
; 81(6): 2291-7, 1996 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-8964866
13.
Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)--evidence for possible autosomal recessive inheritance.
Clin Dysmorphol
; 6(4): 329-36, 1997 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-9354841
14.
Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?
Clin Dysmorphol
; 11(3): 155-61, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12072792
15.
Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12.
Eur J Hum Genet
; 5(5): 336-7, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-9412792
16.
Web-neck anomaly and its association with congenital heart disease.
Am J Med Genet
; 64(4): 605-6, 1996 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-8870931
17.
Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism.
Clin Genet
; 58(2): 142-6, 2000 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11005148
18.
Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation.
J Med Genet
; 35(3): 222-4, 1998 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-9541107
19.
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.
Hum Genet
; 108(6): 546-51, 2001 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-11499682
20.
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
Am J Hum Genet
; 67(1): 197-202, 2000 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-10839976