Detalhe da pesquisa
1.
Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.
Clin Genet
; 93(4): 860-869, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29194579
2.
Antifibrotic effect after low-dose imatinib mesylate treatment in patients with nephrogenic systemic fibrosis: an open-label non-randomized, uncontrolled clinical trial.
J Eur Acad Dermatol Venereol
; 27(6): 779-84, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22188390
3.
Nephrogenic systemic fibrosis is found only among gadolinium-exposed patients with renal insufficiency: a case-control study from Denmark.
Br J Dermatol
; 165(4): 828-36, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21692765
4.
A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.
Clin Exp Dermatol
; 36(2): 142-8, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20846357
5.
A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis.
J Eur Acad Dermatol Venereol
; 30(11): e144-e145, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26575587
6.
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.
Br J Dermatol
; 171(2): 433-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24588319
7.
Low incidence of UPD in spontaneous abortions beyond the 5th gestational week.
Eur J Hum Genet
; 9(12): 910-6, 2001 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11840192
8.
Variability in the phenotypic expression of fryns syndrome: A report of two sibships.
Am J Med Genet
; 95(5): 415-24, 2000 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-11146459
9.
[Fetal pathology--in relation to prenatal diagnosis and genetic counseling]. / Føtalpatologi--i relation til praenatal diagnostik og genetisk rådgivning.
Ugeskr Laeger
; 153(17): 1196-9, 1991 Apr 22.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-2028530
10.
[Pathologic embryo examinations of induced and spontaneous abortions in the 1st trimester of pregnancy]. / Embryopathologische Untersuchungen an induzierten und spontanen Aborten im 1. Schwangerschaftstrimenon.
Pathologe
; 15(1): 32-9, 1994 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-8153073
11.
Normal karyotype in cultured chorionic villus cells, but mosaicism in amniotic and fetal cells.
Prenat Diagn
; 12(11): 951-3, 1992 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-1494548
12.
Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.
Clin Genet
; 37(2): 84-96, 1990 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-2155726
13.
Hand malformations in the aborted embryo: an important source of genetic information.
Birth Defects Orig Artic Ser
; 30(1): 79-94, 1996.
Artigo
em Inglês
| MEDLINE | ID: mdl-9125349