Detalhe da pesquisa
1.
The etiological evaluation of sensorineural hearing loss in children.
Eur J Pediatr
; 178(8): 1195-1205, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31152317
2.
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
Clin Genet
; 94(2): 221-231, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29676012
3.
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.
Clin Genet
; 87(1): 34-41, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-24716670
4.
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
Hum Genet
; 133(5): 625-38, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24326587
5.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
J Med Genet
; 50(7): 463-72, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644449
6.
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.
Clin Genet
; 83(3): 263-8, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22568721
7.
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Clin Genet
; 84(6): 539-45, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23320472
8.
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
Nat Genet
; 26(2): 247-50, 2000 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11017088
9.
Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.
J Otolaryngol Head Neck Surg
; 52(1): 82, 2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38102706
10.
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.
Clin Genet
; 80(1): 31-8, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204793
11.
Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers.
Hum Reprod
; 26(8): 2185-91, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21576079
12.
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
J Med Genet
; 46(9): 598-606, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19264732
13.
Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.
Clin Neuropathol
; 29(6): 361-4, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21073839
14.
Points to consider for laboratories reporting results from diagnostic genomic sequencing.
Eur J Hum Genet
; 26(1): 36-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29184171
15.
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
J Med Genet
; 43(4): 362-70, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16169931
16.
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
J Med Genet
; 42(4): 299-306, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15805155
17.
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
Prenat Diagn
; 30(3): 284-6, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20112233
18.
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.
Am J Med Genet
; 85(3): 305-8, 1999 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-10398247
19.
Neuropeptide Y inhibits Ca2+ oscillations, cyclic AMP, and secretion in melanotrope cells of Xenopus laevis via a Y1 receptor.
Peptides
; 16(5): 889-95, 1995.
Artigo
em Inglês
| MEDLINE | ID: mdl-7479331
20.
A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.
Eur J Med Genet
; 57(11-12): 636-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25281490