Detalhe da pesquisa
1.
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Nature
; 489(7415): 313-7, 2012 Sep 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22885700
2.
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Nat Genet
; 38(4): 452-7, 2006 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16550171
3.
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.
Mol Biol Rep
; 41(1): 193-200, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24194196
4.
A de novo GLI3 mutation in a patient with acrocallosal syndrome.
Am J Med Genet A
; 161A(6): 1394-400, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23633388
5.
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
J Med Genet
; 49(1): 47-57, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22167769
6.
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
Am J Hum Genet
; 85(1): 40-52, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19559397
7.
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Am J Med Genet A
; 158A(10): 2412-20, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22893440
8.
Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.
Pediatr Nephrol
; 26(7): 1167-70, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21399899
9.
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
J Med Genet
; 47(5): 351-5, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20452998
10.
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Hum Mutat
; 31(5): E1348-60, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20232353
11.
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.
Clin Genet
; 76(4): 404-8, 2009 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-19793313
12.
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.
Am J Med Genet A
; 149A(12): 2700-5, 2009 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19921646
13.
Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.
Am J Med Genet A
; 149A(2): 216-25, 2009 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19161153
14.
Bottlenecks in molecular testing for rare genetic diseases.
Hum Mutat
; 29(6): 772-5, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18412107
15.
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Hum Genet
; 122(6): 595-603, 2008 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17938964
16.
Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation.
Curr Med Chem
; 15(13): 1257-62, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18537605
17.
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
Clin Genet
; 74(1): 16-9, 2008 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-18400036
18.
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Eur J Hum Genet
; 23(2): 224-8, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24736733
19.
Transcriptional regulator PRDM12 is essential for human pain perception.
Nat Genet
; 47(7): 803-8, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26005867
20.
Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome.
Clin Dysmorphol
; 11(2): 151-3, 2002 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-12002152