Detalhe da pesquisa
1.
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Am J Hum Genet
; 88(4): 499-507, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21473985
2.
Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.
J Med Genet
; 50(9): 635-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23812911
3.
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Hum Mutat
; 31(1): 41-51, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19802898
4.
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Clin Endocrinol (Oxf)
; 73(5): 671-7, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20718767
5.
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
Hum Reprod
; 24(3): 741-7, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19073614
6.
Beckwith Weidemann syndrome: a behavioral phenotype-genotype study.
Am J Med Genet B Neuropsychiatr Genet
; 147B(7): 1295-7, 2008 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18314872
7.
Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects.
Clin Epigenetics
; 6(1): 11, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24982696
8.
Germline FH mutations presenting with pheochromocytoma.
J Clin Endocrinol Metab
; 99(10): E2046-50, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25004247
9.
Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology.
Clin Epigenetics
; 5(1): 23, 2013 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24325814
10.
Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility.
Endocr Relat Cancer
; 18(1): 73-83, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20959442
11.
A survey of assisted reproductive technology births and imprinting disorders.
Hum Reprod
; 22(12): 3237-40, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17921133