Familial steatocystoma multiplex: HLA, Gm, Km genotyping and chromosomal analysis in two unrelated families.


:Steatocystoma Multiplex (S.M.) is an inherited condition characterized by the appearance of cysts during the first or second decade of life. Familial cases have occasionally been reported. We studied 13 patients affected by S.M. from two unrelated families, focusing our attention on HLA, Gm and Km genotypes and on chromosomal analyses. Although we failed to correlate the syndrome with a particular HLA, Gm or Km haplotype, we report some peculiarities and differences between these two families and the healthy Italian population.


Clin Genet


Clinical genetics


Cuccia-Belvedere M,Brazzelli V,Martinetti M,Berardesca E,Dugoujon JM,De Paoli F,Borroni G,Rabbiosi G




Has Abstract


1989-08-01 00:00:00












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    abstract::Failure to thrive (FTT) causes significant morbidity, often without clear etiologies. Six individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Standard diagnostic work up did not ascertain an etiology. Autozygosity mapping and whole ...

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    authors: Al-Thihli K,Afting C,Al-Hashmi N,Mohammed M,Sliwinski S,Al Shibli N,Al-Said K,Al-Kasbi G,Al-Kharusi K,Merle U,Füllekrug J,Al-Maawali A

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    pub_type: 杂志文章


    authors: Zhao H,Keddache M,Bailey L,Arnold G,Grabowski G

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Golden-Grant K,Merritt JL 2nd,Scott CR

    更新日期:2015-12-01 00:00:00

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    pub_type: 杂志文章


    authors: Romain DR,Columbano-Green LM,Parfitt RG,Chapman CJ,Smythe RH,Gebbie OB

    更新日期:1985-08-01 00:00:00

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    pub_type: 杂志文章


    authors: Kaneko K,Saito F,Sunohara N,Ikeuchi T

    更新日期:1995-03-01 00:00:00

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    pub_type: 杂志文章


    authors: Abbruzzese C,Kuhn U,Molina F,Rama P,De Luca M

    更新日期:2004-02-01 00:00:00

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    pub_type: 杂志文章


    authors: Danesino C,D'Azzo A,Aricò M,Podestà AF,Beluffi G,Bianchi E

    更新日期:1984-11-01 00:00:00

  • A and B postaxial polydactyly in two members of the same family.

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    pub_type: 杂志文章


    authors: Ventruto V,Theo G,Celona A,Fioretti G,Pagano L,Stabile M,Cavaliere ML

    更新日期:1980-11-01 00:00:00

  • Maternal genetic polymorphisms and unexplained recurrent miscarriage: a systematic review and meta-analysis.

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    pub_type: 杂志文章,meta分析,评审


    authors: Shi X,Xie X,Jia Y,Li S

    更新日期:2017-02-01 00:00:00

  • Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.

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    authors: Almannai M,Alasmari A,Alqasmi A,Faqeih E,Al Mutairi F,Alotaibi M,Samman MM,Eyaid W,Aljadhai YI,Shamseldin HE,Craigen W,Alkuraya FS

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    pub_type: 杂志文章


    authors: Patak J,Gilfert J,Byler M,Neerukonda V,Thiffault I,Cross L,Amudhavalli S,Pacio-Miguez M,Palomares-Bralo M,Garcia-Minaur S,Santos-Simarro F,Powis Z,Alcaraz W,Tang S,Jurgens J,Barry B,England E,Engle E,Hess J,Lebel RR

    更新日期:2019-12-01 00:00:00

  • Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

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    pub_type: 杂志文章


    authors: Dyment DA,Tétreault M,Beaulieu CL,Hartley T,Ferreira P,Chardon JW,Marcadier J,Sawyer SL,Mosca SJ,Innes AM,Parboosingh JS,Bulman DE,Schwartzentruber J,Majewski J,Tarnopolsky M,Boycott KM,FORGE Canada Consortium.,Care4Rar

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    pub_type: 杂志文章,评审


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    更新日期:1979-08-01 00:00:00

  • The personal experience of juvenile Huntington's disease: an interpretative phenomenological analysis of parents' accounts of the primary features of a rare genetic condition.

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    pub_type: 杂志文章


    authors: Smith JA,Brewer HM,Eatough V,Stanley CA,Glendinning NW,Quarrell OW

    更新日期:2006-06-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Karlsson JL

    更新日期:1975-11-01 00:00:00

  • De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting.

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    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Back E,Toder R,Voiculescu I,Wildberg A,Schempp W

    更新日期:1994-06-01 00:00:00

  • Genetic variants of the human obesity (OB) gene in subjects with and without Prader-Willi syndrome: comparison with body mass index and weight.

    abstract::We investigated whether an association exists between genetic variants of the human obesity (OB or leptin) gene and body mass index (BMI) or weight in subjects with Prader Willi syndrome (PWS) and in age- and gender-matched lean and obese subjects without PWS. The study included 51 subjects with PWS (mean age = 17.7 +...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Butler MG,Hedges L,Hovis CL,Feurer ID

    更新日期:1998-11-01 00:00:00

  • Parental alpha 1-antitrypsin (PI) types and meiotic nondisjunction in the aetiology of Down syndrome.

    abstract::In 100 children with Down syndrome (DS), the parental origin of the supernumery chromosome 21 was investigated. In 76 out of the 100 cases the polymorphic regions were informative, i.e. the nondisjunction could be traced. Assessment of the alpha 1-antitrypsin/alpha 1-protease inhibitor (PI) types in these DS children ...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Jongbloet PH,Frants RR,Hamers AJ

    更新日期:1981-10-01 00:00:00

  • Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP).

    abstract::Mutations in the surfactant protein (SP)-B gene are responsible for SP-B deficiency in congenital alveolar proteinosis (CAP) (Nogee et al. J Clin Invest 1994: 93: 1860-1883; Lin et al. Mol Genet Metab 1998: 64: 25-35; Klein et al. Pediatrics 1998: 132: 244-248; Ballard et al. Pediatrics 1995: 96: 1046-1052). The multi...

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    authors: Lin Z,deMello DE,Batanian JR,Khammash HM,DiAngelo S,Luo J,Floros J

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Nopoulos P,Richman L,Andreasen NC,Murray JC,Schutte B

    更新日期:2007-06-01 00:00:00

  • Results of genetic screening of donors for artificial insemination.

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Czeizel A,Szentesi I,Horváth L

    更新日期:1983-08-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Aagaard Nolting L,Brasch-Andersen C,Cox H,Kanani F,Parker M,Fry AE,Loddo S,Novelli A,Dentici ML,Joss S,Jørgensen JP,Fagerberg CR

    更新日期:2020-06-01 00:00:00

  • Partial deletion of the short arm of chromosome 3 (3p25----3pter). Further delineation of the clinical phenotype.

    abstract::Clinical descriptions of individuals with partial deletion of the distal short arm of chromosome three have been reported rarely. A characteristic phenotype has been proposed. We present another patient with this cytogenetic abnormality whose physical and developmental features show similarities with, as well as diffe...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Witt DR,Biedermann B,Hall JG

    更新日期:1985-04-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Richmond CM,Leventer R,Ryan MM,Delatycki MB

    更新日期:2020-03-01 00:00:00

  • Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Nectoux J,Heron D,Tallot M,Chelly J,Bienvenu T

    更新日期:2006-07-01 00:00:00

  • Genotyping of the polymorphic N-acetyltransferase (NAT2) and loss of heterozygosity in bladder cancer patients.

    abstract::Acetylation is one of the major routes in metabolism and detoxification of a large number of drugs, chemicals and carcinogens. Slow acetylators are said to be more susceptible to developing bladder cancer and because of investigations about tumor risk based on phenotyping procedures, it was our aim to study the distri...

    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Schnakenberg E,Ehlers C,Feyerabend W,Werdin R,Hübotter R,Dreikorn K,Schloot W

    更新日期:1998-05-01 00:00:00

  • Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting.

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Jongkind JF,Verkerk A,Niermeijer MF

    更新日期:1983-04-01 00:00:00

  • Lack of association between methylenetetrahydrofolate reductase (MTHFR) C677T and ischaemic heart disease (IHD): family-based association study in a Spanish population.

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: González-Pérez E,Via M,López-Alomar A,Esteban E,Valveny N,Bao M,Domingo E,Moral P

    更新日期:2002-09-01 00:00:00