Detalhe da pesquisa
1.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
2.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Am J Hum Genet
; 99(2): 392-406, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426733
3.
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
J Med Genet
; 54(12): 830-835, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29074562
4.
Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor.
Am J Pathol
; 186(12): 3285-3296, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27765635
5.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
; 173(7): 1739-1746, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498505
6.
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Hum Mutat
; 34(6): 801-11, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23505205
7.
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
Am J Hum Genet
; 85(1): 97-105, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19559398
8.
Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.
J Med Genet
; 48(6): 426-32, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21357618
9.
The male phenotype in osteopathia striata congenita with cranial sclerosis.
Am J Med Genet A
; 155A(10): 2397-408, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22043478
10.
Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.
Biomolecules
; 11(2)2021 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33498938
11.
The face of Noonan syndrome: Does phenotype predict genotype.
Am J Med Genet A
; 152A(8): 1960-6, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602484
12.
Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.
Am J Med Genet A
; 152A(5): 1213-24, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425826
13.
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
Ann Hum Genet
; 73(Pt 3): 283-91, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19344451
14.
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Hum Mutat
; 28(6): 638-9, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17437276
15.
47 patients with FLNA associated periventricular nodular heterotopia.
Orphanet J Rare Dis
; 10: 134, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471271
16.
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
BMJ Open
; 3(3)2013 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23512835
17.
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PLoS One
; 8(11): e78496, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24265693
18.
Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients.
Am J Surg Pathol
; 36(5): 702-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22446939
19.
Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.
Eur J Med Genet
; 53(5): 280-5, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20624498
20.
OEIS complex, VATER, and the ongoing difficulties in terminology and delineation.
Am J Med Genet
; 107(1): 72-6, 2002 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11807874