Detalhe da pesquisa
1.
Clonal analysis of human tumors with M27 beta, a highly informative polymorphic X chromosomal probe.
J Clin Invest
; 89(5): 1438-44, 1992 May.
Artigo
Inglês
| MEDLINE | ID: mdl-1349026
2.
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.
J Med Genet
; 38(10): 665-73, 2001 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-11584044
3.
A new polymorphic restriction site in the human 11 beta-hydroxysteroid dehydrogenase type 2 gene.
J Clin Endocrinol Metab
; 83(5): 1814-7, 1998 May.
Artigo
Inglês
| MEDLINE | ID: mdl-9589699
4.
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease.
Eur J Hum Genet
; 7(5): 590-8, 1999 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-10439967
5.
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.
Eur J Hum Genet
; 6(4): 325-30, 1998.
Artigo
Inglês
| MEDLINE | ID: mdl-9781038
6.
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.
Neurology
; 57(5): 900-2, 2001 Sep 11.
Artigo
Inglês
| MEDLINE | ID: mdl-11552027
7.
Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.
Neuromuscul Disord
; 9(1): 41-9, 1999 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-10063835
8.
X-linked myotubular myopathy: refinement of the critical gene region.
Neuromuscul Disord
; 6(4): 275-81, 1996 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-8887957
9.
X-linked centronuclear myopathy: mapping the gene to Xq28.
Neuromuscul Disord
; 1(4): 239-45, 1991.
Artigo
Inglês
| MEDLINE | ID: mdl-1822801
10.
Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.
Dis Markers
; 14(3): 177-86, 1998 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-10427478
11.
Sex determination of forensic samples by simultaneous PCR amplification of alpha-satellite DNA from both the X and Y chromosomes.
J Forensic Sci
; 40(2): 239-41, 1995 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-7602285
12.
Efficient and reliable PCR-based detection of the ABO blood group alleles: genotyping on stamps and other biological evidence samples.
J Forensic Sci
; 41(4): 653-7, 1996 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-8754576
13.
[Preliminary tests with Hemastix and Sangur test strips and Phosphatesmo KM test paper do not modify DNA typing of blood and semen stains]. / Vorproben mit Hemastix-und Sangur Testastäbchen sowie Phosphatesmo KM-Testpapier beeinflussen die DNA-Typisierung von Blut- und Spermaspuren nicht.
Arch Kriminol
; 193(1-2): 37-42, 1994.
Artigo
Alemão
| MEDLINE | ID: mdl-7908512
14.
The delta F508-deletion in 99 CF patients of Switzerland.
Adv Exp Med Biol
; 290: 367-8, 1991.
Artigo
Inglês
| MEDLINE | ID: mdl-1950749
15.
Screening for carriers of cystic fibrosis among partners of people heterozygous for the disease.
BMJ
; 301(6760): 1081, 1990 Nov 10.
Artigo
Inglês
| MEDLINE | ID: mdl-2103736
16.
Cystic fibrosis mutations and immotile cilia syndrome.
Clin Genet
; 47(6): 328-9, 1995 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-7554369
17.
Genotype-phenotype association in infants with cystic fibrosis at the time of diagnosis.
Pediatr Res
; 44(6): 920-6, 1998 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-9853928
18.
[New advances in muscular dystrophy: an up-to-date diagnostic plan]. / Neue Erkenntnisse bei den Muskeldystrophien: aktualisierter Abklärungsplan.
Schweiz Med Wochenschr
; 129(33): 1141-51, 1999 Aug 21.
Artigo
Alemão
| MEDLINE | ID: mdl-10483667
19.
Buccal cell DNA analysis in premature and term neonates: screening for mutations of the complete coding region for the cystic fibrosis transmembrane conductance regulator.
Eur J Pediatr
; 159(1-2): 99-102, 2000.
Artigo
Inglês
| MEDLINE | ID: mdl-10653340
20.
Familial deletion in Becker type muscular dystrophy within the pXJ region.
Hum Genet
; 77(3): 267-8, 1987 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-2890571