Detalhe da pesquisa
1.
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.
J Med Genet
; 40(7): 473-8, 2003 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-12843316
2.
Clinical expression of Menkes disease in a girl with X;13 translocation.
Am J Med Genet
; 87(4): 354-9, 1999 Dec 03.
Artigo
Inglês
| MEDLINE | ID: mdl-10588844
3.
Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families.
Am J Med Genet
; 85(5): 502-10, 1999 Aug 27.
Artigo
Inglês
| MEDLINE | ID: mdl-10405451
4.
Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.
J Med Genet
; 39(1): 68-71, 2002 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-11826030
5.
Screening for breast cancer. Consider family history also.
BMJ
; 309(6955): 664, 1994 Sep 10.
Artigo
Inglês
| MEDLINE | ID: mdl-8086995
6.
Family history and survival in premenopausal breast cancer.
Br J Cancer
; 77(12): 2252-6, 1998 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-9649141
7.
Congenital leptin deficiency is associated with severe early-onset obesity in humans.
Nature
; 387(6636): 903-8, 1997 Jun 26.
Artigo
Inglês
| MEDLINE | ID: mdl-9202122