Literature DB >> 3338796

Localization of the spherocytosis gene to chromosome segment 8p11.22----8p21.

M Kitatani1, H Chiyo, M Ozaki, S Shike, S Miwa.   

Abstract

A case of hereditary spherocytosis (HS) is reported. Cytogenetic study revealed a de novo minute deletion of chromosome 8. The critical portion which affected the expression of the HS phenotype appeared to be localized to 8p11.22----8p21.1.

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Year:  1988        PMID： 3338796     DOI： 10.1007/bf00291244

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  7 in total

1.  Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation.

Authors:  W J Kimberling; T Fulbeck; L Dixon; H A Lubs
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

2.  Small structural changes of chromosome 8. Two cases with evidence for deletion.

Authors:  C Beighle; L E Karp; J W Hanson; J G Hall; H Hoehn
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

3.  4th International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12.

Authors: 
Journal:  Cytogenet Cell Genet       Date:  1978

4.  Further evidence for location of the spherocytosis gene on chromosome 8.

Authors:  E B Bass; S W Smith; R E Stevenson; W F Rosse
Journal:  Ann Intern Med       Date:  1983-08       Impact factor: 25.391

5.  A new R-banding technique in clinical cytogenetics.

Authors:  G S Pai; G H Thomas
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

6.  Linkage and gene localization of hereditary spherocytosis (HS).

Authors:  W J Kimberling; R A Taylor; R G Chapman; H A Lubs
Journal:  Blood       Date:  1978-11       Impact factor: 22.113

7.  Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding.

Authors:  T Ikeuchi
Journal:  Cytogenet Cell Genet       Date:  1984
  7 in total
  7 in total

Review 1.  Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.

Authors:  M J Pettenati; N Rao; C Johnson; R Hayworth; K Crandall; O Huff; I T Thomas
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

Review 2.  The spectrin skeleton: from red cells to brain.

Authors:  V Bennett; S Lambert
Journal:  J Clin Invest       Date:  1991-05       Impact factor: 14.808

Review 3.  Human chromosome 8.

Authors:  S Wood
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.

Authors:  Maria I Stamou; Harrison Brand; Mei Wang; Isaac Wong; Margaret F Lippincott; Lacey Plummer; William F Crowley; Michael Talkowski; Stephanie Seminara; Ravikumar Balasubramanian
Journal:  J Clin Endocrinol Metab       Date:  2022-07-14       Impact factor: 6.134

6.  Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.

Authors:  Jincheng Dai; Jun Zeng; Hongxi Tan; Xiangsheng Cai; Benqing Wu
Journal:  BMC Med Genomics       Date:  2022-06-06       Impact factor: 3.622

7.  Combined ankyrin and spectrin deficiency in hereditary spherocytosis.

Authors:  A Pekrun; S W Eber; A Kuhlmey; W Schröter
Journal:  Ann Hematol       Date:  1993-08       Impact factor: 3.673
  7 in total

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