Detalhe da pesquisa
1.
Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment.
Ultrasound Obstet Gynecol
; 59(4): 513-521, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34182598
2.
Heterogeneity in defining fetal corpus callosal pathology: systematic review.
Ultrasound Obstet Gynecol
; 58(1): 11-18, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32798278
3.
Re-focusing on Agnathia-Otocephaly complex.
Clin Oral Investig
; 25(3): 1353-1362, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32643087
4.
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Clin Genet
; 90(6): 509-517, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060890
5.
MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY.
Genet Couns
; 26(2): 171-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26349186
6.
Posterior fossa imaging in 158 children with ataxia.
J Neuroradiol
; 37(4): 220-30, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20378176
7.
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Clin Genet
; 84(1): 86-90, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23036093
8.
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.
J Med Genet
; 44(8): 537-40, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17468296
9.
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
Hum Mutat
; 28(8): 790-6, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17397038
10.
High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.
J Med Genet
; 43(7): 598-608, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16415175
11.
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
J Med Genet
; 43(3): 211-217, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16169932
12.
GLI3 is rarely implicated in OFD syndromes with midline abnormalities.
Hum Mutat
; 32(11): 1332-3, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21796731
13.
L-carnitine is synthesized in the human fetal-placental unit: potential roles in placental and fetal metabolism.
Placenta
; 27(8): 841-6, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16300828
14.
Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p.
J Mol Med (Berl)
; 80(7): 431-42, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12110949
15.
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
Eur J Hum Genet
; 8(11): 820-6, 2000 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11093271
16.
Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development.
Gene Expr Patterns
; 5(2): 279-84, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15567726
17.
Expression of the RET proto-oncogene in human embryos.
Am J Med Genet
; 80(5): 481-6, 1998 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-9880212
18.
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.
Am J Med Genet
; 93(2): 85-8, 2000 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-10869107
19.
Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.
Eur J Med Genet
; 56(9): 502-5, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23832107
20.
[Prenatal symptoms and diagnosis of inherited metabolic diseases]. / Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique.
Arch Pediatr
; 19(9): 959-69, 2012 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-22884749