Literature DB >> 5645693

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

R J Pollitt, F A Jenner, M Davies.   

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Year:  1968        PMID： 5645693      PMCID： PMC2019837          DOI： 10.1136/adc.43.228.211

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  19 in total

1.  A comparative study of high-sulphur proteins from alpha-keratins.

Authors:  J M Gillespie; A S Inglis
Journal:  Comp Biochem Physiol       Date:  1965-06

Review 2.  The chemistry of keratins.

Authors:  W G Crewther; R D Fraser; F G Lennox; H Lindley
Journal:  Adv Protein Chem       Date:  1965

3.  Sex-linked neurodegenerative disease associated with monilethrix.

Authors:  P F Bray
Journal:  Pediatrics       Date:  1965-09       Impact factor: 7.124

4.  The dietary-regulated biosynthesis of high-sulphur wool proteins.

Authors:  J M Gillespie; P J Reis
Journal:  Biochem J       Date:  1966-03       Impact factor: 3.857

5.  Arginosuccine aciduria.

Authors:  B Levin
Journal:  Am J Dis Child       Date:  1967-01

6.  Trichorrhexis nodosa. Clinical and investigative studies.

Authors:  M E Chernosky; D W Owens
Journal:  Arch Dermatol       Date:  1966-11

7.  Separation and properties of argininosuccinate and its two anhydrides and their detection in biological materials.

Authors:  S Ratner; M Kunkemueller
Journal:  Biochemistry       Date:  1966-06       Impact factor: 3.162

8.  Kinky hair disease. II. Biochemical studies.

Authors:  J S O'Brien; E L Sampson
Journal:  J Neuropathol Exp Neurol       Date:  1966-10       Impact factor: 3.685

9.  Kinky hair disease. I. Clinical and pathological features.

Authors:  M J Aguilar; D L Chadwick; K Okuyama; S Kamoshita
Journal:  J Neuropathol Exp Neurol       Date:  1966-10       Impact factor: 3.685

10.  Aminogenic alopecia. Loss of hair associated with argininosuccinic aciduria.

Authors:  W B Shelly; H M Rawnsley
Journal:  Lancet       Date:  1965-12-25       Impact factor: 79.321
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  17 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

2.  Mental retardation, short stature and brittle hair (BIDS syndrome; hair brain syndrome).

Authors:  R K Hora; V S Murthy
Journal:  Indian J Pediatr       Date:  1996 Jan-Feb       Impact factor: 1.967

3.  The physicochemical properties of hair in the BIDS syndrome.

Authors:  H P Baden; C E Jackson; L Weiss; K Jimbow; L Lee; J Kubilus; R J Gold
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

4.  Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome.

Authors:  A Rebora; F Crovato
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

Review 5.  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

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.  Hair amino acids: normal values and results in metabolic errors.

Authors:  M Van Sande
Journal:  Arch Dis Child       Date:  1970-10       Impact factor: 3.791

8.  Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.

Authors:  Deborah Tamura; Sikandar G Khan; Melissa Merideth; John J DiGiovanna; Margaret A Tucker; Alisa M Goldstein; Kyu-Seon Oh; Takahiro Ueda; Jennifer Boyle; Mansi Sarihan; Kenneth H Kraemer
Journal:  Eur J Hum Genet       Date:  2012-05-23       Impact factor: 4.246

9.  The trichothiodystrophy syndrome of Pollitt.

Authors:  S Chapman
Journal:  Pediatr Radiol       Date:  1988

10.  The Sabinas syndrome.

Authors:  R R Howell; A I Arbisser; D S Parsons; C I Scott; U Fraustadt; W R Collie; R N Marshall; O C Ibarra
Journal:  Am J Hum Genet       Date:  1981-11       Impact factor: 11.025
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