Detalhe da pesquisa
1.
A family with autosomal dominant oculo-auriculo-vertebral spectrum.
Clin Dysmorphol
; 16(1): 1-7, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17159507
2.
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
Eur J Med Genet
; 48(4): 397-411, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16378924
3.
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Eur J Hum Genet
; 11(2): 201-6, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12634870
4.
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Eur J Hum Genet
; 11(11): 858-65, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14571271
5.
Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.
Am J Med Genet
; 113(2): 207-12, 2002 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-12407714
6.
Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH.
Clin Dysmorphol
; 12(4): 261-5, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14564215
7.
Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.
Am J Med Genet A
; 123A(3): 296-300, 2003 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14608653
8.
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
Am J Hum Genet
; 70(2): 547-55, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11778160
9.
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Proc Natl Acad Sci U S A
; 100(21): 12277-82, 2003 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-14523231
10.
Otocephaly and holoprosencephaly in only one monozygotic twin.
Am J Med Genet A
; 119A(3): 395-6, 2003 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12784314