Detalhe da pesquisa
1.
Bone Characteristics and Their Determinants in Adolescents and Young Adults with Early-Onset Severe Obesity.
Calcif Tissue Int
; 97(4): 364-75, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26139232
2.
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.
Nat Genet
; 25(3): 298-301, 2000 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-10888877
3.
Global analysis of uniparental disomy using high density genotyping arrays.
J Med Genet
; 42(11): 847-51, 2005 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-15879501
4.
Mulibrey nanism: clinical features and diagnostic criteria.
J Med Genet
; 41(2): 92-8, 2004 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-14757854
5.
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
J Med Genet
; 38(4): 273-8, 2001 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-11370636
6.
[Adolescence--a challenge for the therapy of diabetes]. / Nuoruusikä--haaste diabeteksen hoidolle.
Duodecim
; 115(5): 485-6, 1999.
Artigo
Finlandês
| MEDLINE | ID: mdl-11830898
7.
Cardiac dysfunction in children with mulibrey nanism.
Pediatr Cardiol
; 28(3): 155-62, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17375349
8.
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.
Am J Hum Genet
; 68(1): 247-53, 2001 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-11112662
9.
Impaired glucose tolerance and dyslipidaemia as late effects after bone-marrow transplantation in childhood.
Lancet
; 356(9234): 993-7, 2000 Sep 16.
Artigo
Inglês
| MEDLINE | ID: mdl-11041401
10.
Cohen syndrome: evaluation of its cardiac, endocrine and radiological features.
Clin Genet
; 56(1): 41-50, 1999 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-10466416
11.
Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.
Genomics
; 73(1): 1-9, 2001 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-11352560
12.
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.
Am J Hum Genet
; 60(4): 896-902, 1997 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-9106536
13.
High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes.
Diabetologia
; 42(9): 1131-7, 1999 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-10447526
14.
Growth hormone treatment of short children born small-for-gestational-age: the Nordic Multicentre Trial.
Acta Paediatr
; 87(3): 257-63, 1998 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-9560030
15.
Assessment of mulibrey nanism cardiopathy with functional magnetic resonance imaging.
MAGMA
; 11(1-2): 84-6, 2000 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-11187000