Literature DB >> 712760

Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family.

A Heimler, E Friedman, A D Rosenthal.   

Abstract

A family is described in which 16 individuals in 3 generations have Charcot-Marie-Tooth disease. At least 6 family members also have the naevoid basal cell carcinoma syndrome. In addition, 1 subject with both disorders has 2 young daughters with the naevoid basal cell carcinoma syndrome.

Entities:  

Mesh：

Year:  1978        PMID： 712760      PMCID： PMC1013699          DOI： 10.1136/jmg.15.4.288

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  MULTIPLE BASAL-CELL NEVI SYNDROME. AN ANALYSIS OF A SYNDROME CONSISTING OF MULTIPLE NEVOID BASAL-CELL CARCINOMA, JAW CYSTS, SKELETAL ANOMALIES, MEDULLOBLASTOMA, AND HYPORESPONSIVENESS TO PARATHORMONE.

Authors:  R J GORLIN; R A VICKERS; E KELLEN; J J WILLIAMSON
Journal:  Cancer       Date:  1965-01       Impact factor: 6.860

Review 2.  Genetic and environmental interactions.

Authors:  L C Strong
Journal:  Cancer       Date:  1977-10       Impact factor: 6.860

3.  Genetic and clinical aspects of Charcot-Marie-Tooth's disease.

Authors:  H Skre
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

4.  Linkage analysis of the nevoid basal cell carcinoma syndrome.

Authors:  D E Anderson
Journal:  Ann Hum Genet       Date:  1968-10       Impact factor: 1.670

5.  Familial jaw cysts in Charcot-Marie-Tooth disease.

Authors:  M R Swift; S L Horowitz
Journal:  J Med Genet       Date:  1969-06       Impact factor: 6.318
  5 in total
  9 in total

1.  Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

Authors:  C K Abrams; M M Freidin; V K Verselis; M V Bennett; T A Bargiello
Journal:  Brain Res       Date:  2001-05-04       Impact factor: 3.252

2.  Genetic linkage studies in hereditary motor and sensory neuropathies.

Authors:  F Leblhuber; F Reisecker; W R Mayr
Journal:  J Neurol       Date:  1986-10       Impact factor: 4.849

Review 3.  Molecular genetics of X-linked Charcot-Marie-Tooth disease.

Authors:  Kleopas A Kleopa; Steven S Scherer
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

4.  Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

Authors:  T D Bird; J Ott; E R Giblett
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

5.  Altered trafficking of mutant connexin32.

Authors:  S M Deschênes; J L Walcott; T L Wexler; S S Scherer; K H Fischbeck
Journal:  J Neurosci       Date:  1997-12-01       Impact factor: 6.167

6.  Chromosomal radiosensitivity during the G2 cell-cycle period of skin fibroblasts from individuals with familial cancer.

Authors:  R Parshad; K K Sanford; G M Jones
Journal:  Proc Natl Acad Sci U S A       Date:  1985-08       Impact factor: 11.205

7.  Nevoid Basal Cell Carcinoma Syndrome: A Long-Term Study in a Family.

Authors:  Thiago de Santana Santos; André Vajgel; Paulo Ricardo Saquete Martins-Filho; Almir Walter de Albuquerque Maranhao Filho; Ricardo José De Holanda Vasconcellos; Riedel Frota; José Rodrigues Laureano Filho
Journal:  Craniomaxillofac Trauma Reconstr       Date:  2015-08-03

Review 8.  Charcot Marie Tooth disease (CMT): historical perspectives and evolution.

Authors:  Mohamed Kazamel; Christopher J Boes
Journal:  J Neurol       Date:  2014-09-09       Impact factor: 4.849

Review 9.  The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma.

Authors:  D G Evans; P A Farndon; L D Burnell; H R Gattamaneni; J M Birch
Journal:  Br J Cancer       Date:  1991-11       Impact factor: 7.640
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.