Detalhe da pesquisa
1.
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
Clin Genet
; 89(5): 630-5, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26582393
2.
Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.
Clin Genet
; 88(5): 479-83, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25382487
3.
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Clin Genet
; 86(3): 246-51, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24003905
4.
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
Clin Genet
; 85(5): 464-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23790188
5.
CARD15 mutations in Blau syndrome.
Nat Genet
; 29(1): 19-20, 2001 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-11528384
6.
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.
Clin Genet
; 81(3): 265-71, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204802
7.
Small patella syndrome: New clinical and molecular insights into a consistent phenotype.
Clin Genet
; 92(6): 676-678, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29120062
8.
What can we learn from old microdeletion syndromes using array-CGH screening?
Clin Genet
; 82(1): 41-7, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21722100
9.
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
J Med Genet
; 47(1): 22-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19592390
10.
Fraser syndrome without cryptophthalmos: Two cases.
Eur J Med Genet
; 63(4): 103839, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31923588
11.
Genetics of limb anomalies in humans.
Trends Genet
; 15(10): 409-17, 1999 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-10498937
12.
[Genetics and orthopedics: genetic implications of congenital limb abnormalities]. / Génétique et orthopédie: gènes impliqués dans les malformations congénitales des membres.
Rev Chir Orthop Reparatrice Appar Mot
; 92(1): 83-94, 2006 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-16609623
13.
The GAPO syndrome.
Am J Med Genet
; 26(3): 683-8, 1987 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-3565482
14.
The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.
Am J Med Genet
; 87(5): 430-3, 1999 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-10594883
15.
Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance.
Am J Med Genet
; 34(4): 584-6, 1989 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-2624273
16.
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature.
Am J Med Genet
; 76(3): 217-21, 1998 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-9508240
17.
Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family.
Am J Med Genet
; 37(1): 143-6, 1990 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-2240032
18.
Fryns syndrome and erupted teeth in a 24-weeks-old fetus.
Genet Couns
; 7(2): 131-4, 1996.
Artigo
em Inglês
| MEDLINE | ID: mdl-8831132
19.
Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels.
Genet Couns
; 7(4): 249-55, 1996.
Artigo
em Inglês
| MEDLINE | ID: mdl-8985728
20.
[Value of fetopathological examination in medical abortions: comparison of prenatal diagnosis and autopsy results of 300 fetuses]. / Intérêt de l'examen foetopathologique dans le cadre des interruptions médicales de grossesse: comparaison entre le diagnostic prénatal et les résultats de l'autopsie de 300 foetus.
Ann Pathol
; 20(6): 549-57, 2000 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-11148350