Literature DB >> 182300

X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia.

J C Perrin, J Y Idemoto, J F Sotos, W F Maurer, A G Steinberg.   

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Year:  1976        PMID： 182300

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  7 in total

Review 1.  The William Allan memorial award address: X-chromosome inactivation and the location and expression of X-linked genes.

Authors:  M F Lyon
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

2.  Steroid sulphatase deficiency and hypogonadism.

Authors:  G Andria; A Ballabio; G Parenti; S DiMaio; A Piccirillo
Journal:  Eur J Pediatr       Date:  1984-09       Impact factor: 3.183

3.  X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.

Authors:  A Ballabio; G Parenti; P Tippett; C Mondello; S Di Maio; A Tenore; G Andria
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

4.  Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.

Authors:  M Münke; K Kruse; M Goos; H H Ropers; M Tolksdorf
Journal:  Eur J Pediatr       Date:  1983-10       Impact factor: 3.183

5.  Moebius syndrome in association with hypogonadotropic hypogonadism.

Authors:  L E Brackett; L M Demers; A C Mamourian; C Ellenberger; R J Santen
Journal:  J Endocrinol Invest       Date:  1991 Jul-Aug       Impact factor: 4.256

6.  Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.

Authors:  H Traupe; R Happle
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183

7.  Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

Authors:  A Ballabio; G Sebastio; R Carrozzo; G Parenti; A Piccirillo; M G Persico; G Andria
Journal:  Hum Genet       Date:  1987-12       Impact factor: 4.132
  7 in total

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