Detalhe da pesquisa
1.
Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.
Clin Endocrinol (Oxf)
; 83(5): 671-6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26119964
2.
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet
; 50(3): 174-86, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315542
3.
Genetic findings in short Turkish children born to consanguineous parents.
Horm Res Paediatr
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838658
4.
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Am J Med Genet A
; 161A(5): 973-6, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23494849
5.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Eur J Med Genet
; 66(1): 104670, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414205
6.
The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.
Fam Cancer
; 6(1): 43-51, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17039270
7.
[Maternal uniparental disomy 14; differential diagnosis with Prader-Willi syndrome]. / Maternale uniparentale disomie 14. In de differentiaaldiagnose bij Prader-Willi-syndroom.
Ned Tijdschr Geneeskd
; 159: A8240, 2015.
Artigo
em Holandês
| MEDLINE | ID: mdl-25898865
8.
WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report.
Horm Res Paediatr
; 83(3): 211-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25613702
9.
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Orphanet J Rare Dis
; 8: 63, 2013 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23621943
10.
Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians.
CA Cancer J Clin
; 56(4): 213-25, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16870997
11.
Decrease in mortality in Lynch syndrome families because of surveillance.
Gastroenterology
; 130(3): 665-71, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16530507
12.
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
Gastroenterology
; 130(2): 312-22, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16472587
13.
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.
Gastroenterology
; 127(1): 17-25, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15236168