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Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.
Fuchs S, Kellner U, Wedemann H, Gal A. Fuchs S, et al. Among authors: gal a. Hum Mutat. 1995;6(3):257-9. doi: 10.1002/humu.1380060312. Hum Mutat. 1995. PMID: 8535448 No abstract available.
[Molecular genetic diagnosis of Wiskott-Aldrich syndrome].
Orth U, Rosenkranz W, Schwinger E, Holzgreve W, Gal A. Orth U, et al. Among authors: gal a. Monatsschr Kinderheilkd. 1993 Sep;141(9):728-31. Monatsschr Kinderheilkd. 1993. PMID: 8413349 German.
BACKGROUND/AIMS: Wiskott-Aldrich syndrome is a severe X-linked recessive disorder of the hematopoietic system. The gene locus for Wiskott-Aldrich syndrome was mapped on the proximal short arm of the X chromosome by demonstrating close linkage to the loci DXS255 and TIMP. . …
BACKGROUND/AIMS: Wiskott-Aldrich syndrome is a severe X-linked recessive disorder of the hematopoietic system. The gene locus for Wis …
Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families.
Müller B, Orth U, van Nouhuys CE, Duvigneau C, Fuhrmann C, Schwinger E, Laqua H, Gal A. Müller B, et al. Among authors: gal a. Genomics. 1994 Mar 15;20(2):317-9. doi: 10.1006/geno.1994.1176. Genomics. 1994. PMID: 8020986
Autosomal dominant exudative vitreoretinopathy is a disorder affecting primarily the development of the human retinal vascular system. ...Two-point analysis on a total of four families has now revealed close linkage (Zmax = 8.34 at theta = 0.00) between the disease …
Autosomal dominant exudative vitreoretinopathy is a disorder affecting primarily the development of the human retinal vascular system …
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.
Bunge S, Steglich C, Lorenz P, Beck M, Xu S, Hopwood JJ, Gal A. Bunge S, et al. Among authors: gal a. Prenat Diagn. 1994 Sep;14(9):777-80. doi: 10.1002/pd.1970140902. Prenat Diagn. 1994. PMID: 7845883
In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. ...
In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele w …
[Molecular genetic diagnosis in X chromosome-linked retinitis pigmentosa].
Hogenkamp T, Wienker TF, Majewski F, Gal A. Hogenkamp T, et al. Among authors: gal a. Klin Monbl Augenheilkd. 1987 Oct;191(4):307-9. doi: 10.1055/s-2008-1050516. Klin Monbl Augenheilkd. 1987. PMID: 2891868 German.
The close link observed between the gene locus (RP2) and a polymorphic DNA marker (DXS7) on the proximal short arm of the X-chromosome permits an indirect genotype diagnosis and can be helpful in carrier detection and genetic counseling. A case is presented in which …
The close link observed between the gene locus (RP2) and a polymorphic DNA marker (DXS7) on the proximal short arm of the X-chromosom …
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C. Zwaenepoel I, et al. Among authors: gal a. Hum Mutat. 2001;17(1):34-41. doi: 10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O. Hum Mutat. 2001. PMID: 11139240
A complete USH1C mutation screening in these four carriers of the 238-239insC mutation resulted in the detection of the second mutation in all the individuals, and the identification of three novel mutations, namely two splice site mutations (IVS1+1G>T and IVS5+1G>
A complete USH1C mutation screening in these four carriers of the 238-239insC mutation resulted in the detection of the second mutati
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
Finckh U, Kohlschütter A, Schäfer H, Sperhake K, Colombo JP, Gal A. Finckh U, et al. Among authors: gal a. Hum Mutat. 1998;12(3):206-11. doi: 10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9711878
We report a consanguineous family in which the index patient died at 11 days of age from a severe form of CPS1 deficiency. Initial diagnosis was based on clinical histopathological, and enzymatic investigations. Direct sequencing of the complete CPS1 coding region r …
We report a consanguineous family in which the index patient died at 11 days of age from a severe form of CPS1 deficiency. Ini …
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ. Scott HS, et al. Among authors: gal a. Hum Mutat. 1995;6(4):288-302. doi: 10.1002/humu.1380060403. Hum Mutat. 1995. PMID: 8680403 Review.
A total of 46 mutations now have been defined for MPS-I consisting of 8 nonsense mutations, 21 missense mutations, 3 splice site mutations, and 14 minor deletions and/or insertions. ...A complex picture of molecular heterogeneity is emerging, building a valua
A total of 46 mutations now have been defined for MPS-I consisting of 8 nonsense mutations, 21 missense mutations, 3 splice site muta
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A. Hopwood JJ, et al. Among authors: gal a. Hum Mutat. 1993;2(6):435-42. doi: 10.1002/humu.1380020603. Hum Mutat. 1993. PMID: 8111411 Review.
From the group of 319 patients thus far studied by Southern analysis, 14 have a full deletion of the gene and 48 have a partial deletion or other gross rearrangements. ...A 60 bp deletion, that results from a new donor splice-site, has been observed in …
From the group of 319 patients thus far studied by Southern analysis, 14 have a full deletion of the gene and 48 have a partia …
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
Bunge S, Steglich C, Zuther C, Beck M, Morris CP, Schwinger E, Schinzel A, Hopwood JJ, Gal A. Bunge S, et al. Among authors: gal a. Hum Mol Genet. 1993 Nov;2(11):1871-5. doi: 10.1093/hmg/2.11.1871. Hum Mol Genet. 1993. PMID: 8281149
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