Detalhe da pesquisa
1.
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.
Science
; 252(5009): 1097-102, 1991 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-2031184
2.
Mu and delta opioid receptor knockout mice show increased colonic sensitivity.
Eur J Pain
; 21(4): 623-634, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27748566
3.
Protective effects of n-6 fatty acids-enriched diet on intestinal ischaemia/reperfusion injury involve lipoxin A4 and its receptor.
Br J Pharmacol
; 172(3): 910-23, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25296998
4.
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia by simultaneous radioimmunoassay of 21-deoxycortisol and 17-hydroxyprogesterone in amniotic fluid.
J Clin Endocrinol Metab
; 66(3): 534-7, 1988 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-3258316
5.
General cystic fibrosis mutations are usually missense mutations affecting two specific protein domains and associated with a specific RFLP marker haplotype.
Eur J Hum Genet
; 1(4): 287-95, 1993.
Artigo
em Inglês
| MEDLINE | ID: mdl-7521765
6.
Transition from normal to premutated alleles in fragile X syndrome results from a multistep process.
Eur J Hum Genet
; 2(2): 125-31, 1994.
Artigo
em Inglês
| MEDLINE | ID: mdl-8044657
7.
Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.
Eur J Hum Genet
; 1(3): 229-38, 1993.
Artigo
em Inglês
| MEDLINE | ID: mdl-8044648
8.
Direct DNA analysis of fragile X syndrome in Spanish pedigrees.
Am J Med Genet
; 43(1-2): 282-90, 1992.
Artigo
em Inglês
| MEDLINE | ID: mdl-1351363
9.
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.
Am J Med Genet
; 43(1-2): 208-16, 1992.
Artigo
em Inglês
| MEDLINE | ID: mdl-1605193
10.
Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association.
Am J Med Genet
; 43(1-2): 224-31, 1992.
Artigo
em Inglês
| MEDLINE | ID: mdl-1605195
11.
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.
Am J Med Genet
; 72(3): 324-8, 1997 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-9332663
12.
A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus.
Am J Med Genet
; 12(4): 465-87, 1982 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-6214946
13.
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
Am J Med Genet
; 93(4): 294-8, 2000 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-10946356
14.
Human triploidy: association with partial hydatidiform moles and nonmolar conceptuses.
Hum Pathol
; 12(11): 1016-21, 1981 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-7319489
15.
Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia.
Clin Chim Acta
; 116(1): 1-7, 1981 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-7318168
16.
Genetic counselling and prenatal diagnosis for chromosome anomalies. Use of study of spontaneous abortions.
Int J Gynaecol Obstet
; 14(4): 290-5, 1976.
Artigo
em Inglês
| MEDLINE | ID: mdl-15884
17.
[Accidental ultrasonographic disclosure of isolated intra-abdominal fetal hyperechogenicity. Apropos of a series of 87 cases]. / Découverte fortuite à l'échographie d'une hyperéchogénicité intra-abdominale foetale isolée. A propos d'une série de 87 cas.
J Radiol
; 73(12): 699-704, 1992 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-1301444
18.
[Antenatal diagnosis. A psychological study. I. The intervention of doctors in pregnancy (author's transl)]. / Le diagnostic prénatal. étude psychologique. I. L'intervention des médecins dans la grossesse.
J Gynecol Obstet Biol Reprod (Paris)
; 7(5): 961-73, 1978.
Artigo
em Francês
| MEDLINE | ID: mdl-739126
19.
[Prenatal diagnosis. A psychological study. II. Pregnancy after the age of 40 (author's transl)]. / Le diagnostic prénatal. Etude psychologique. II. les grossesses après 40 ans.
J Gynecol Obstet Biol Reprod (Paris)
; 7(6): 1079-85, 1978 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-730987
20.
[Genetics of Fragile X syndrome and its prevention]. / La génétique du syndrome de l'X fragile et sa prévention.
J Gynecol Obstet Biol Reprod (Paris)
; 26(3): 273-9, 1997.
Artigo
em Francês
| MEDLINE | ID: mdl-9265049