Detalhe da pesquisa
1.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology
; 79(5): 1075-1087, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37976411
2.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Am J Med Genet A
; : e63559, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421105
3.
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.
Am J Hum Genet
; 91(1): 171-9, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22770981
4.
Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.
Brain
; 137(Pt 4): 1068-79, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24561559
5.
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Hum Mutat
; 34(1): 111-21, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22829427
6.
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Am J Med Genet A
; 161A(9): 2158-66, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913520
7.
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
J Med Genet
; 49(7): 473-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22791840
8.
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Hum Mutat
; 33(2): 316-26, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22095942
9.
Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.
Biochem Biophys Res Commun
; 418(4): 830-5, 2012 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-22314138
10.
The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors.
Mod Pathol
; 25(6): 911-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22388758
11.
4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.
Am J Med Genet A
; 173(8): 2289-2292, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544325
12.
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
Hum Mutat
; 32(7): 815-24, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21520335
13.
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Genet Med
; 12(7): 431-9, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20531206
14.
Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.
Am J Med Genet A
; 146A(11): 1453-7, 2008 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18449925
15.
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
J Med Genet
; 44(10): 651-6, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17586837
16.
Mirror movements identified in patients with moebius syndrome.
Tremor Other Hyperkinet Mov (N Y)
; 4: 256, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25120946
17.
Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?
Fam Cancer
; 11(3): 529-33, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22692730
18.
Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion.
Neurology
; 84(15): 1605-6, 2015 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25795643
19.
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy.
Prenat Diagn
; 26(4): 392-3, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16566041