Literature DB >> 7325159

The Sabinas syndrome.

R R Howell, A I Arbisser, D S Parsons, C I Scott, U Fraustadt, W R Collie, R N Marshall, O C Ibarra.   

Abstract

We have defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.

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Year:  1981        PMID： 7325159      PMCID： PMC1685163     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  12 in total

1.  Integration of pulsatile gonadotropin secretion by timed urinary measurements: an accurate and sensitive 3-hour test.

Authors:  H E Kulin; P M Bell; R J Santen; A J Ferber
Journal:  J Clin Endocrinol Metab       Date:  1975-05       Impact factor: 5.958

2.  Ectodermal dysplasia.

Authors:  D ROSSELLI; R GULIENETTI
Journal:  Br J Plast Surg       Date:  1961-10

3.  Computerized data analysis of amino acids in physiologic fluids.

Authors:  J H Brown; S Walker; L Casto; R R Howell
Journal:  J Chromatogr       Date:  1976-01-21

4.  Infantile metachromatic leukodystrophy.

Authors:  M M Kaback; R R Howell
Journal:  N Engl J Med       Date:  1970-06-11       Impact factor: 91.245

5.  A familial syndrome of deafness, alopecia, and hypogonadism.

Authors:  B F Crandall; L Samec; R S Sparkes; S W Wright
Journal:  J Pediatr       Date:  1973-03       Impact factor: 4.406

6.  Proteins of normal hair and of cystine-deficient hair from mentally retarded siblings.

Authors:  R J Pollitt; P D Stonier
Journal:  Biochem J       Date:  1971-05       Impact factor: 3.857

7.  Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.

Authors:  R J Pollitt; F A Jenner; M Davies
Journal:  Arch Dis Child       Date:  1968-04       Impact factor: 3.791

8.  A congenital hair defect: trichoschisis with alternating birefringence and low sulfur content.

Authors:  A C Brown; R B Belser; R G Crounse; R F Wehr
Journal:  J Invest Dermatol       Date:  1970-06       Impact factor: 8.551

9.  Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation. Delineation of the syndrome.

Authors:  A Hernández; F Olivares; J M Cantú
Journal:  Clin Genet       Date:  1979-02       Impact factor: 4.438

10.  Menkes disease: a biochemical abnormality in cultured human fibroblasts.

Authors:  T J Goka; R E Stevenson; P M Hefferan; R R Howell
Journal:  Proc Natl Acad Sci U S A       Date:  1976-02       Impact factor: 11.205
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  5 in total

Review 1.  Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Authors:  S Faghri; D Tamura; K H Kraemer; J J Digiovanna
Journal:  J Med Genet       Date:  2008-06-25       Impact factor: 6.318

Review 2.  Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.

Authors:  Mohsen Hosseini; Khaled Ezzedine; Alain Taieb; Hamid R Rezvani
Journal:  J Invest Dermatol       Date:  2014-10-09       Impact factor: 8.551

3.  Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

Authors:  Kazuhiko Nakabayashi; Daniela Amann; Yan Ren; Ulpu Saarialho-Kere; Nili Avidan; Simone Gentles; Jeffrey R MacDonald; Erik G Puffenberger; Angela M Christiano; Amalia Martinez-Mir; Julio C Salas-Alanis; Renata Rizzo; Esther Vamos; Anja Raams; Clifford Les; Eric Seboun; Nicolaas G J Jaspers; Jacques S Beckmann; Charles E Jackson; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2005-01-11       Impact factor: 11.025

4.  Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

Authors:  M Stefanini; P Lagomarsini; C F Arlett; S Marinoni; C Borrone; F Crovato; G Trevisan; G Cordone; F Nuzzo
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

5.  Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.

Authors:  A Fois; P Balestri; S Calvieri; M Zampetti; S Giustini; M Stefanini; P Lagomarsini
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183
  5 in total

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