Detalhe da pesquisa
1.
Multiple bilateral hip fractures in a patient with dyskeratosis congenita caused by a novel mutation in the PARN gene.
Osteoporos Int
; 32(6): 1227-1231, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33244623
2.
Clinical, molecular genetics and therapeutic aspects of syndromic obesity.
Clin Genet
; 95(1): 23-40, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29700824
3.
Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity.
Int J Obes (Lond)
; 38(7): 1000-4, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24097297
4.
Localization of the gene for hyperostosis cranialis interna to chromosome 8p21 with analysis of three candidate genes.
Calcif Tissue Int
; 93(1): 93-100, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23640157
5.
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.
Nat Genet
; 24(1): 45-8, 2000 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-10615125
6.
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
Nat Genet
; 1(3): 171-5, 1992 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-1303230
7.
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.
Nat Genet
; 1(3): 218-21, 1992 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-1303239
8.
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
Nat Genet
; 26(3): 273-5, 2000 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-11062463
9.
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
Nat Genet
; 23(1): 94-8, 1999 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-10471507
10.
Genetic association between WNT10B polymorphisms and obesity in a Belgian case-control population is restricted to males.
Mol Genet Metab
; 105(3): 489-93, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22189080
11.
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
Clin Genet
; 80(4): 383-8, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20950377
12.
Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2.
Calcif Tissue Int
; 84(5): 355-60, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19259722
13.
Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch).
Science
; 248(4959): 1120-2, 1990 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-1971458
14.
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
J Med Genet
; 43(1): 1-11, 2006 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-15894597
15.
An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutation.
Bone
; 36(3): 542-8, 2005 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-15777670
16.
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).
J Med Genet
; 37(12): 916-20, 2000 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-11106354
17.
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.
J Med Genet
; 39(2): 91-7, 2002 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-11836356
18.
Evidence that the rat osteopetrotic mutation toothless (tl) is not in the TNFSF11 (TRANCE, RANKL, ODF, OPGL) gene.
Int J Dev Biol
; 45(8): 853-9, 2001 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-11804028
19.
Further evidence for genetic heterogeneity within type II autosomal dominant osteopetrosis.
J Bone Miner Res
; 15(10): 1900-4, 2000 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-11028441
20.
Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity.
J Bone Miner Res
; 13(6): 911-7, 1998 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-9626621