DOI: 10.1007/bf00291885. 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

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

10.1007/bf00291885

Crossref journal-article

Springer Science and Business Media LLC

Human Genetics (297)

Bibliography

Ballabio, A., Parenti, G., Tippett, P., Mondello, C., Di Maio, S., Tenore, A., & Andria, G. (1986). 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. Human Genetics, 72(3), 237â240.

Authors 7

A. Ballabio (first)
G. Parenti (additional)
P. Tippett (additional)
C. Mondello (additional)
S. Di Maio (additional)
A. Tenore (additional)
G. Andria (additional)

References 27 Referenced 64

Allderdice PW, Aveling JV, Eales BA, Lewis MJ, McAlpine PJ, Ross JB, Simms RJ (1983) Familial t(X:Y)(p223q11) associated with short stature in 4 male and 5 female carriers and with X-linked ichthyosis and anhydrosis in 4 male carriers. Am J Hum Genet 35:124A
Andria G, Ballabio A, Parenti G, Di Maio S, Piccirillo A (1983) Steroid sulphatase deficiency is present in patients with X-linked ?ichthyosis and male hypogonadism? and with ?Rud syndrome?. Communication at the 21st Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, September 1983. Edition Fondation Marcel Merieux, Lyon, p 101 (abstr) / Communication at the 21st Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, September 1983 by G Andria (1983)
Andria G, Ballabio A, Parenti G, Di Maio S, Piccirillo A (1984a) Steroid sulphatase deficiency is present in patients with the syndrome ?ichthyosis and male hypogonadism? and with ?Rud syndrome?. J Inherited Metab Dis 7 [Suppl 2]:158?160 / J Inherited Metab Dis by G Andria (1984)
Andria G, Ballabio A, Parenti G, Di Maio S, Piccirillo A (1984b) Steroid sulphatase deficiency and hypogonadism. Eur J Pediatr 142:304?305 (10.1007/BF00540260) / Eur J Pediatr by G Andria (1984)
Ballabio A, Parenti G, Napolitano E, Di Natale P, Andria G (1985) Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency. Hum Genet 70:315?317 (10.1007/BF00295367) / Hum Genet by A Ballabio (1985)
Bergsma D (ed) (1979) Birth defects compendium, 2nd edn, The National Foundation March of Dimes. Liss, New York, p 741 / Birth defects compendium (1979)
Curry CJR, Magenis RE, Brown M, Lanman JT, Tsai J, O'Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ (1984) Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 311:1010?1015 (10.1056/NEJM198410183111603) / N Engl J Med by CJR Curry (1984)
Davies KE, Young BD, Elles RG, Hill ME, Williamson R (1981) Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature 293:374?376 (10.1038/293374a0) / Nature by KE Davies (1981)
Henkin PI, Bartter FC (1966) Studies on olfactory thresholds in normal man and in patients with adrenal cortical insufficiency: the role of adrenal cortical steroids and serum sodium concentration. J Clin Invest 45:1631?1639 (10.1172/JCI105470) / J Clin Invest by PI Henkin (1966)
Hofker MH, Wapenaar MC, Goor N, Bakker E, van Ommen GJB, Pearson PL (1985) Isolation of probes detecting restriction fragment length polymorphisms from X chromosome specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet 70:148?156 (10.1007/BF00273073) / Hum Genet by MH Hofker (1985)
Keats BJB (1981) Linkage and chromosome mapping in man. University Press of Hawaii, Honolulu / Linkage and chromosome mapping in man by BJB Keats (1981)
Koenig M, Camerino G, Heilig R, Mandel JL (1984) A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosome long arm. Nucleic Acids Res 12:4097?4109 (10.1093/nar/12.10.4097) / Nucleic Acids Res by M Koenig (1984)
Lykkesfeldt G, Hoyer H, Lykkesfeldt AE, Skakkebaer NE (1983) Steroid sulphatase deficiency associated with testis cancer. Lancet II:1456 (10.1016/S0140-6736(83)90801-2) / Lancet by G Lykkesfeldt (1983)
Maniatis T, Fritsch EF, Sambrook J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbour Laboratory, Cold Spring Harbor, NY / Molecular cloning: a laboratory manual by T Maniatis (1982)
McKusick VA (1983) Mendelian inheritance in man, 6th edn. Johns Hopkins University Press, Baltimore / Mendelian inheritance in man by VA McKusick (1983)
Middlesworth W, Bertelson C, Kunkel LM (1985) An RFLP detecting single-copy X chromosome fragment dic56, from Xp22-Xpter [DXS143]. Nucleic Acids Res 13:5723 (10.1093/nar/13.15.5723) / Nucleic Acids Res by W Middlesworth (1985)
Ott J (1974) Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:588?597 / Am J Hum Genet by J Ott (1974)
Parenti G, Ballabio A, Napolitano E, Di Natale P, Andria G (1985) Hybridization studies of steroid sulphatase on fibroblasts from patients affected by X-linked ichthyosis with and without hypogonadism. Perspect Inherited Metab Dis 6:125?130 / Perspect Inherited Metab Dis by G Parenti (1985)
Perrin JCS, Idemoto JY, Sotos JF, Maurer WF, Steinberg AG (1976) X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia. Birth Defects 5:267?274 / Birth Defects by JCS Perrin (1976)
Sanger R, Tippett P, Gavin J (1971) The X-linked blood group system Xg. Tests on unrelated people and families of Northern European ancestry. J Med Genet 8:427?433 (10.1136/jmg.8.4.427) / J Med Genet by R Sanger (1971)
Shapiro LJ (1984) Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome. Adv Hum Genet 14:331?389 / Adv Hum Genet by LJ Shapiro (1984)
Shapiro LJ, Weiss R, Buxman MM, Vidgoff J, Dimond RL, Roller JA, Wells RS (1978) Enzymatic basis of typical X-linked ichthyosis. Lancet II:756?757 (10.1016/S0140-6736(78)92646-6) / Lancet by LJ Shapiro (1978)
Tiepolo L, Zuffardi O, Fraccaro M, Di Natale D, Gargantini L, Muller CR, Ropers HH (1980) Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet 54:205?206 (10.1007/BF00278973) / Hum Genet by L Tiepolo (1980)
Traupe H, Happle R (1983) Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complication, and cryptorchidism. Eur J Pediatr 140:19?21 (10.1007/BF00661898) / Eur J Pediatr by H Traupe (1983)
Traupe H, Mueller-Migl CR, Kolde G, Happle R, Kovary PM, Hameister H, Ropers HH (1984) Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing. Clin Genet 25:42?51 (10.1111/j.1399-0004.1984.tb00461.x) / Clin Genet by H Traupe (1984)
Wieringa B, Hustinx Th, Scheres J, Renier W, ter Haar B (1985) Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. Clin Genet 27:522?523 (10.1111/j.1399-0004.1985.tb00244.x) / Clin Genet by B Wieringa (1985)
Yunis JJ, Chandler ME (1977) High resolution chromosome analysis in clinical medicine. Prog Clin Pathol 7:267?288 / Prog Clin Pathol by JJ Yunis (1977)

Dates

Type	When
Created	20 years, 10 months ago (Oct. 5, 2004, 8:41 p.m.)
Deposited	6 years, 4 months ago (April 8, 2019, 1:16 p.m.)
Indexed	11 months, 3 weeks ago (Sept. 8, 2024, 6:55 a.m.)
Issued	39 years, 6 months ago (March 1, 1986)
Published	39 years, 6 months ago (March 1, 1986)
Published Print	39 years, 6 months ago (March 1, 1986)

Funders 0

None

BibTeX

@article{Ballabio_1986, title={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}, volume={72}, ISSN={1432-1203}, url={http://dx.doi.org/10.1007/bf00291885}, DOI={10.1007/bf00291885}, number={3}, journal={Human Genetics}, publisher={Springer Science and Business Media LLC}, author={Ballabio, A. and Parenti, G. and Tippett, P. and Mondello, C. and Di Maio, S. and Tenore, A. and Andria, G.}, year={1986}, month=mar, pages={237–240} }

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    "date-parts": [
      [
        1986,
        3
      ]
    ]
  },
  "references-count": 27,
  "journal-issue": {
    "issue": "3",
    "published-print": {
      "date-parts": [
        [
          1986,
          3
        ]
      ]
    }
  },
  "alternative-id": [
    "BF00291885"
  ],
  "URL": "http://dx.doi.org/10.1007/BF00291885",
  "relation": {},
  "ISSN": [
    "0340-6717",
    "1432-1203"
  ],
  "subject": [],
  "container-title-short": "Hum Genet",
  "published": {
    "date-parts": [
      [
        1986,
        3
      ]
    ]
  }
}