150 related articles for article (PubMed ID: 10533035)
1. Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).
de Vries BB; Eussen BH; van Diggelen OP; van Der Heide A; Deelen WH; Govaerts LC; Lindhout D; Wouters CH; Van Hemel JO
Am J Med Genet; 1999 Nov; 87(2):189-94. PubMed ID: 10533035
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis.
Vassal H; Medeira A; Cordeiro I; Santos HG; Castedo S; Saraiva C; da Silva PM; Monteiro C
Am J Med Genet; 2001 Apr; 99(4):331-4. PubMed ID: 11252003
[No Abstract] [Full Text] [Related]
4. Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions.
Nishimura S; Masuda H; Matsumoto T; Sakura N; Matsumoto T; Ueda K
Am J Med Genet; 1991 Sep; 40(3):260-3. PubMed ID: 1951426
[TBL] [Abstract][Full Text] [Related]
5. Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26).
Reinehr T; Jauch A; Zoll B; Engel U; Bartels I; Andler W
Am J Med Genet; 2001 Jul; 102(1):81-5. PubMed ID: 11471178
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.
Gohlke BC; Haug K; Fukami M; Friedl W; Noeker M; Rappold GA; Haverkamp F
J Med Genet; 2000 Aug; 37(8):600-2. PubMed ID: 10922387
[TBL] [Abstract][Full Text] [Related]
8. X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies.
Robledo R; Melis P; Schillinger E; Casciano I; Balazs I; Rinaldi A; Siniscalco M; Filippi G
Am J Med Genet; 1995 Nov; 59(2):143-8. PubMed ID: 8588575
[TBL] [Abstract][Full Text] [Related]
9. Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.
van Steensel MA; Vreeburg M; Engelen J; Ghesquiere S; Stegmann AP; Herbergs J; van Lent J; Smeets B; Vles JH
Am J Med Genet A; 2008 Nov; 146A(22):2944-9. PubMed ID: 18925676
[TBL] [Abstract][Full Text] [Related]
10. A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects.
Paige DG; Emilion GG; Bouloux PM; Harper JI
Br J Dermatol; 1994 Nov; 131(5):622-9. PubMed ID: 7999591
[TBL] [Abstract][Full Text] [Related]
11. Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
Ben Khelifa H; Soyah N; Ben-Abdallah-Bouhjar I; Gritly R; Sanlaville D; Elghezal H; Saad A; Mougou-Zerelli S
Gene; 2013 Sep; 527(2):578-83. PubMed ID: 23791652
[TBL] [Abstract][Full Text] [Related]
12. A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction.
Nomura K; Nakano H; Umeki K; Harada K; Kon A; Tamai K; Sawamura D; Hashimoto I
Acta Derm Venereol; 1995 Sep; 75(5):340-2. PubMed ID: 8615047
[TBL] [Abstract][Full Text] [Related]
13. An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis.
Maya-Nuñez G; Torres L; Ulloa-Aguirre A; Zenteno JC; Cuevas-Covarrubias S; Saavedra-Ontiveros D; Kofman-Alfaro S; Méndez JP
Clin Endocrinol (Oxf); 1999 Feb; 50(2):157-62. PubMed ID: 10396356
[TBL] [Abstract][Full Text] [Related]
14. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques.
Aviram-Goldring A; Goldman B; Netanelov-Shapira I; Chen-Shtoyerman R; Zvulunov A; Tal O; Ilan T; Peleg L
Int J Dermatol; 2000 Mar; 39(3):182-7. PubMed ID: 10759956
[TBL] [Abstract][Full Text] [Related]
15. Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.
Maya-Núñez G; Cuevas-Covarrubias S; Zenteno JC; Ulloa-Aguirre A; Kofman-Alfaro S; Méndez JP
Clin Endocrinol (Oxf); 1998 Jun; 48(6):713-8. PubMed ID: 9713559
[TBL] [Abstract][Full Text] [Related]
16. Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis.
Valdes-Flores M; Kofman-Alfaro SH; Vaca AL; Cuevas-Covarrubias SA
J Invest Dermatol; 2001 Mar; 116(3):456-8. PubMed ID: 11231321
[TBL] [Abstract][Full Text] [Related]
17. Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency.
Yen PH; Ferrero GB; Chinault AC; Mohandas T; Ballabio A
Hum Mutat; 1994; 4(1):76-8. PubMed ID: 7951263
[No Abstract] [Full Text] [Related]
18. Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier.
Cuevas-Covarrubias SA; Jiménez-Vaca AL; González-Huerta LM; Valdes-Flores M; Del Refugio Rivera-Vega M; Maya-Nunez G; Kofman-Alfaro SH
J Invest Dermatol; 2002 Oct; 119(4):972-5. PubMed ID: 12406347
[TBL] [Abstract][Full Text] [Related]
19. XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation.
Matsumoto T; Taku K; Miike T; Harada N; Niikawa N
Clin Genet; 1991 Feb; 39(2):156-8. PubMed ID: 2015697
[No Abstract] [Full Text] [Related]
20. An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
Doherty MJ; Glass IA; Bennett CL; Cotter PD; Watson NF; Mitchell AL; Bird TD; Farrell DF
Epilepsia; 2003 Dec; 44(12):1529-35. PubMed ID: 14636323
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]