Detalhe da pesquisa
1.
Implication of chromosomal microarray analysis prior to in-utero repair of fetal open neural tube defect.
Ultrasound Obstet Gynecol
; 61(6): 719-727, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36610024
2.
No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.
Hum Reprod
; 30(1): 232-8, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25376457
3.
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
Nat Genet
; 23(2): 185-8, 1999 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-10508514
4.
Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification.
Nat Genet
; 6(1): 19-23, 1994 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-8136827
5.
A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.
Mol Hum Reprod
; 14(1): 33-40, 2008 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-18039680
6.
Methyl-CpG-binding protein 2 mutations in Rett syndrome.
Curr Opin Genet Dev
; 10(3): 275-9, 2000 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-10826991
7.
Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?
Cytogenet Genome Res
; 99(1-4): 289-96, 2002.
Artigo
Inglês
| MEDLINE | ID: mdl-12900577
8.
The product of the imprinted gene IPL marks human villous cytotrophoblast and is lost in complete hydatidiform mole.
Placenta
; 24(8-9): 835-42, 2003.
Artigo
Inglês
| MEDLINE | ID: mdl-13129680
9.
Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome.
Am J Med Genet
; 78(2): 179-81, 1998 Jun 30.
Artigo
Inglês
| MEDLINE | ID: mdl-9674913
10.
Prenatal diagnosis and clinical findings in a case of hexasomy 12p.
Am J Med Genet
; 47(8): 1171-4, 1993 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-8291550
11.
Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.
Am J Med Genet
; 94(2): 102-12, 2000 Sep 11.
Artigo
Inglês
| MEDLINE | ID: mdl-10982966
12.
Fetal RhD typing by polymerase chain reaction in pregnancies complicated by rhesus alloimmunization.
Obstet Gynecol
; 88(6): 1061-7, 1996 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-8942854
13.
The effect of gestational age and fetal indomethacin levels on the incidence of constriction of the fetal ductus arteriosus.
Obstet Gynecol
; 82(4 Pt 1): 500-3, 1993 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-8377971
14.
Prenatal diagnosis of the RhD fetal blood type on amniotic fluid by polymerase chain reaction.
Obstet Gynecol
; 87(3): 419-22, 1996 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-8598966
15.
Skewed X inactivation in X-linked disorders.
Semin Reprod Med
; 19(2): 183-91, 2001 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-11480916
16.
The human homologue (PEG3) of the mouse paternally expressed gene 3 (Peg3) is maternally imprinted but not mutated in women with familial recurrent hydatidiform molar pregnancies.
J Soc Gynecol Investig
; 8(5): 305-13, 2001.
Artigo
Inglês
| MEDLINE | ID: mdl-11677152
17.
Prostaglandin synthetase inhibitors in pregnancy.
Obstet Gynecol Surv
; 48(7): 493-502, 1993 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-8355924
18.
Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.
Brain Dev
; 23 Suppl 1: S147-51, 2001 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-11738862
19.
Treatment of polyhydramnios with indomethacin.
Clin Perinatol
; 21(3): 615-30, 1994 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-7982337
20.
Antenatal fetal death in twin pregnancies: a dangerous condition mainly for the surviving co-twin; a report of four cases.
Eur J Obstet Gynecol Reprod Biol
; 38(1): 69-73, 1991 Jan 04.
Artigo
Inglês
| MEDLINE | ID: mdl-1988328