Literature DB >> 6434878

Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'.

G Andria, A Ballabio, G Parenti, S Di Maio, A Piccirillo.   

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Year:  1984        PMID： 6434878     DOI： 10.1007/978-94-009-5612-4_54

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  8 in total

Review 1.  The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.

Authors:  Cecilia Martin; Ravikumar Balasubramanian; Andrew A Dwyer; Margaret G Au; Yisrael Sidis; Ursula B Kaiser; Stephanie B Seminara; Nelly Pitteloud; Qun-Yong Zhou; William F Crowley
Journal:  Endocr Rev       Date:  2010-10-29       Impact factor: 19.871

2.  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.

Authors:  R E Schnur; B J Trask; G van den Engh; H H Punnett; M Kistenmacher; M A Tomeo; R E Naids; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

3.  Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency.

Authors:  G Parenti; A Ballabio; A T Hoogeveen; C M Van der Loos; A C Jobsis; G Andria
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

4.  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

5.  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

6.  Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Authors:  A Ballabio; B Bardoni; R Carrozzo; G Andria; D Bick; L Campbell; B Hamel; M A Ferguson-Smith; G Gimelli; M Fraccaro
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

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

8.  Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

Authors:  T Meitinger; B Heye; C Petit; J Levilliers; A Golla; C Moraine; B Dalla Piccola; W G Sippell; J Murken; A Ballabio
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025
  8 in total

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