162 related articles for article (PubMed ID: 9727739)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. X-linked ichthyosis with hypogonadism: not always Kallmann's syndrome.
Quinton R; Schofield JK; Duke VM; Bouloux PM; Buchanan CR; Leigh IM; Wood DF
Clin Exp Dermatol; 1997 Jul; 22(4):201-4. PubMed ID: 9499614
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.
Ballabio A; Sebastio G; Carrozzo R; Parenti G; Piccirillo A; Persico MG; Andria G
Hum Genet; 1987 Dec; 77(4):338-41. PubMed ID: 3480263
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Detection of KAL-1 gene deletion with fluorescence in situ hybridization.
Hou JW; Tsai WY; Wang TR
J Formos Med Assoc; 1999 Jun; 98(6):448-51. PubMed ID: 10443071
[TBL] [Abstract][Full Text] [Related]
13. Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family.
Xu H; Li Z; Wang T; Wang S; Liu J; Wang DW
Andrologia; 2015 Dec; 47(10):1160-5. PubMed ID: 25597551
[TBL] [Abstract][Full Text] [Related]
14. Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome.
Berges-Raso I; Giménez-Palop O; Gabau E; Capel I; Caixàs A; Rigla M
Endocrinol Diabetes Metab Case Rep; 2017 Sep; 2017():. PubMed ID: 30352392
[TBL] [Abstract][Full Text] [Related]
15. Xp22.3 deletions in isolated familial Kallmann's syndrome.
Hardelin JP; Levilliers J; Young J; Pholsena M; Legouis R; Kirk J; Bouloux P; Petit C; Schaison G
J Clin Endocrinol Metab; 1993 Apr; 76(4):827-31. PubMed ID: 8473391
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome.
Martul P; Pineda J; Levilliers J; Vazquez JA; Rodriguez-Soriano J; Loridan L; Diaz-Perez JL
Clin Endocrinol (Oxf); 1995 Feb; 42(2):121-8. PubMed ID: 7704955
[TBL] [Abstract][Full Text] [Related]
19. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
Ballabio A; Bardoni B; Carrozzo R; Andria G; Bick D; Campbell L; Hamel B; Ferguson-Smith MA; Gimelli G; Fraccaro M
Proc Natl Acad Sci U S A; 1989 Dec; 86(24):10001-5. PubMed ID: 2602357
[TBL] [Abstract][Full Text] [Related]
20. Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation.
Hosomi N; Oiso N; Fukai K; Hanada K; Fujita H; Ishii M
J Dermatol Sci; 2007 Jan; 45(1):31-6. PubMed ID: 17113756
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
