194 related articles for article (PubMed ID: 8230160)
1. Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.
Meindl A; Hosenfeld D; Brückl W; Schuffenhauer S; Jenderny J; Bacskulin A; Oppermann HC; Swensson O; Bouloux P; Meitinger T
J Med Genet; 1993 Oct; 30(10):838-42. PubMed ID: 8230160
[TBL] [Abstract][Full Text] [Related]
2. A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.
Melichar VO; Guth S; Hellebrand H; Meindl A; von der Hardt K; Kraus C; Trautmann U; Rascher W; Rauch A; Zenker M
Am J Med Genet A; 2007 Jan; 143A(2):135-41. PubMed ID: 17163525
[TBL] [Abstract][Full Text] [Related]
3. Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.
Ballabio A; Zollo M; Carrozzo R; Caiulo A; Zuffardi O; Cascioli CF; Viggiano D; Strisciuglio P
Am J Med Genet; 1991 Nov; 41(2):184-7. PubMed ID: 1785631
[TBL] [Abstract][Full Text] [Related]
4. A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval.
Klink A; Meindl A; Hellebrand H; Rappold GA
Hum Genet; 1994 Apr; 93(4):463-6. PubMed ID: 8168818
[TBL] [Abstract][Full Text] [Related]
5. Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.
Hou JW
Chang Gung Med J; 2005 Sep; 28(9):643-50. PubMed ID: 16323556
[TBL] [Abstract][Full Text] [Related]
6. Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus.
Bouloux PM; Kirk J; Munroe P; Duke V; Meindl A; Hilson A; Grant D; Carter N; Betts D; Meitinger T
Clin Genet; 1993 Apr; 43(4):169-73. PubMed ID: 8330450
[TBL] [Abstract][Full Text] [Related]
7. Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
Lonardo F; Parenti G; Luquetti DV; Annunziata I; Della Monica M; Perone L; De Gregori M; Zuffardi O; Brunetti-Pierri N; Andria G; Scarano G
Eur J Med Genet; 2007; 50(4):301-8. PubMed ID: 17591464
[TBL] [Abstract][Full Text] [Related]
8. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.
Schnur RE; Trask BJ; van den Engh G; Punnett HH; Kistenmacher M; Tomeo MA; Naids RE; Nussbaum RL
Am J Hum Genet; 1989 Nov; 45(5):706-20. PubMed ID: 2573275
[TBL] [Abstract][Full Text] [Related]
9. A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.
Cho EH; Kim SY; Kim JK
J Korean Med Sci; 2012 Oct; 27(10):1273-7. PubMed ID: 23091330
[TBL] [Abstract][Full Text] [Related]
10. Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.
Bick DP; Schorderet DF; Price PA; Campbell L; Huff RW; Shapiro LJ; Moore CM
Prenat Diagn; 1992 Jan; 12(1):19-29. PubMed ID: 1557308
[TBL] [Abstract][Full Text] [Related]
11. Refinement of the localization of the X-linked ocular albinism gene.
Bergen AA; Zijp P; Schuurman EJ; Bleeker-Wagemakers EM; Apkarian P; van Ommen GJ
Genomics; 1993 Apr; 16(1):272-3. PubMed ID: 8486373
[TBL] [Abstract][Full Text] [Related]
12. Linkage analysis in X-linked ocular albinism.
Schnur RE; Nussbaum RL; Anson-Cartwright L; McDowell C; Worton RG; Musarella MA
Genomics; 1991 Apr; 9(4):605-13. PubMed ID: 1674724
[TBL] [Abstract][Full Text] [Related]
13. Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.
Bick D; Curry CJ; McGill JR; Schorderet DF; Bux RC; Moore CM
Am J Med Genet; 1989 May; 33(1):100-7. PubMed ID: 2750777
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.
Schnur RE; Wick PA; Bailey C; Rebbeck T; Weleber RG; Wagstaff J; Grix AW; Pagon RA; Hockey A; Edwards MJ
Am J Hum Genet; 1994 Sep; 55(3):484-96. PubMed ID: 7915878
[TBL] [Abstract][Full Text] [Related]
15. X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
Ballabio A; Parenti G; Carrozzo R; Coppa G; Felici L; Migliori V; Silengo M; Franceschini P; Andria G
Clin Genet; 1988 Jul; 34(1):31-7. PubMed ID: 3165728
[TBL] [Abstract][Full Text] [Related]
16. Long-range restriction map of the terminal part of the short arm of the human X chromosome.
Petit C; Levilliers J; Weissenbach J
Proc Natl Acad Sci U S A; 1990 May; 87(10):3680-4. PubMed ID: 2339111
[TBL] [Abstract][Full Text] [Related]
17. Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.
Weissörtel R; Strom TM; Dörr HG; Rauch A; Meitinger T
Clin Genet; 1998 Jul; 54(1):45-51. PubMed ID: 9727739
[TBL] [Abstract][Full Text] [Related]
18. Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.
Zhang Y; McMahon R; Charles SJ; Green JS; Moore AT; Barton DE; Yates JR
J Med Genet; 1993 Nov; 30(11):923-5. PubMed ID: 8301646
[TBL] [Abstract][Full Text] [Related]
19. Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2.
Herrell S; Novo FJ; Charlton R; Affara NA
Genomics; 1995 Jan; 25(2):526-37. PubMed ID: 7789987
[TBL] [Abstract][Full Text] [Related]
20. Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.
Seidel J; Schiller S; Kelbova C; Beensen V; Orth U; Vogt S; Claussen U; Zintl F; Rappold GA
Clin Genet; 2001 Feb; 59(2):115-21. PubMed ID: 11260213
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
