Detalhe da pesquisa
1.
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
Am J Med Genet A
; 191(1): 100-107, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308343
2.
Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.
Am J Med Genet A
; 167A(9): 2034-41, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899082
3.
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Nat Genet
; 38(8): 910-6, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16845400
4.
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
Am J Hum Genet
; 89(2): 295-301, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21802062
5.
Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.
Am J Med Genet A
; 164A(3): 639-47, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357464
6.
Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.
Am J Med Genet A
; 164A(2): 338-45, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311462
7.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS Genet
; 7(7): e1002173, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21779178
8.
A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.
Am J Med Genet A
; 161A(9): 2281-90, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23894067
9.
Patient with disorganization syndrome: surgical procedures, pathology, and potential causes.
Birth Defects Res A Clin Mol Teratol
; 97(12): 781-5, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24307594
10.
Assessing pre-implantation embryo development in mice provides a rationale for understanding potential adverse effects of ART and PGD procedures.
Am J Med Genet A
; 158A(10): 2526-33, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903927
11.
Conjoined twins: a worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research.
Am J Med Genet C Semin Med Genet
; 157C(4): 274-87, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002822
12.
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.
Am J Med Genet C Semin Med Genet
; 157C(4): 358-73, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002878
13.
Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research.
Am J Med Genet C Semin Med Genet
; 157C(4): 262-73, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002952
14.
Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.
Am J Med Genet C Semin Med Genet
; 157C(4): 288-304, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002956
15.
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.
Am J Med Genet C Semin Med Genet
; 157C(4): 305-20, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002800
16.
Paper 6: EUROCAT member registries: organization and activities.
Birth Defects Res A Clin Mol Teratol
; 91 Suppl 1: S51-S100, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21381185
17.
Can our understanding of epigenetics assist with primary prevention of congenital defects?
J Med Genet
; 47(2): 73-80, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19755430
18.
Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.
Front Genet
; 12: 645595, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34394178
19.
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia.
Am J Med Genet A
; 152A(1): 245-55, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20034074
20.
Prevention, diagnosis and services.
Adv Exp Med Biol
; 686: 55-75, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20824439