Detalhe da pesquisa
1.
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Genome Res
; 26(2): 183-91, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26755636
2.
Noncoding copy-number variations are associated with congenital limb malformation.
Genet Med
; 20(6): 599-607, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236091
3.
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.
J Hum Genet
; 62(2): 325-328, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604556
4.
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.
Am J Med Genet A
; 170(9): 2372-6, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27351625
5.
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.
Am J Med Genet A
; 170A(5): 1202-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26822876
6.
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.
J Med Genet
; 52(7): 476-83, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26032025
7.
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.
J Med Genet
; 50(6): 360-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23564750
8.
Split hand/foot malformation associated with 20p12.1 deletion: A case report.
Eur J Med Genet
; 63(4): 103805, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31698100
9.
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.
Eur J Hum Genet
; 27(12): 1827-1835, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31320746
10.
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.
Eur J Med Genet
; 60(8): 421-425, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28559208
11.
A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.
Mol Syndromol
; 8(6): 318-324, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29230162
12.
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.
Eur J Hum Genet
; 24(8): 1132-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26733284
13.
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.
Eur J Med Genet
; 58(8): 376-80, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26096994
14.
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
Orphanet J Rare Dis
; 9: 108, 2014 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231166
15.
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Sci Transl Med
; 6(252): 252ra123, 2014 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25186178