Literature DB >> 736041

Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D).

E J Winsor, J P Welch.   

Abstract

All known cases of Nova Scotia Niemann-Pick Disease (type D) were traced to a couple born in Nova Scotia in the late 1600s. It is speculated that this disease is the result of a single mutation in one of the ancestors of Yarmouth County French Acadians. In the district where most affected children lived, the heterozygote frequency was estimated to be between 10% and 26%.

Entities:  

Mesh：

Year:  1978        PMID： 736041      PMCID： PMC1685594     

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


  18 in total

1.  THE DISTRIBUTION OF CERTAIN GENES IN THE OLD ORDER AMISH.

Authors:  V A MCKUSICK; J A HOSTETLER; J A EGELAND; R ELDRIDGE
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1964

2.  The cerebral defect in Tay-Sachs disease and Niemann-Pick disease.

Authors:  A C CROCKER
Journal:  J Neurochem       Date:  1961-04       Impact factor: 5.372

3.  Niemann-Pick disease: a review of eighteen patients.

Authors:  A C CROCKER; S FARBER
Journal:  Medicine (Baltimore)       Date:  1958-02       Impact factor: 1.889

4.  Fortran Programs for Computing Wright's Coefficient of Inbreeding in Human and Nonhuman Pedigrees.

Authors:  A P Mange
Journal:  Am J Hum Genet       Date:  1964-12       Impact factor: 11.025

5.  Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes.

Authors:  D A Wenger; G Barth; J H Githens
Journal:  Am J Dis Child       Date:  1977-09

6.  Isoenzymes of sphingomyelinase and the genetic defect in Niemann-Pick disease, type C.

Authors:  J W Callahan; M Khalil; J Gerrie
Journal:  Biochem Biophys Res Commun       Date:  1974-05-20       Impact factor: 3.575

7.  Type D Niemann-Pick disease (Nova Scotia variant). Ultrastructure of blood, skin fibroblasts, and bone marrow.

Authors:  V G Vethamany; J P Welch; S K Vethamany
Journal:  Arch Pathol       Date:  1972-06

8.  Niemann-Pick disease (type C). Histopathology and ultrastructure.

Authors:  J M Emery; W R Green; D S Huff; H R Sloan
Journal:  Am J Ophthalmol       Date:  1972-12       Impact factor: 5.258

9.  Niemann-Pick disease type D: lipid analyses and studies on sphingomyelinases.

Authors:  B G Rao; M W Spence
Journal:  Ann Neurol       Date:  1977-04       Impact factor: 10.422

10.  A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients.

Authors:  B G Neville; B D Lake; R Stephens; M D Sanders
Journal:  Brain       Date:  1973       Impact factor: 13.501
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  16 in total

1.  A population-based analysis of the health experience of African Nova Scotians.

Authors:  Steve Kisely; Mikiko Terashima; Don Langille
Journal:  CMAJ       Date:  2008-09-23       Impact factor: 8.262

2.  Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.

Authors:  Meral Topçu; Dilek Aktas; Merih Öztoprak; Neslihan Önenli Mungan; Aysel Yuce; Mehmet Alikasifoglu
Journal:  Mol Diagn Ther       Date:  2017-12       Impact factor: 4.074

3.  The Spectrum of Niemann-Pick Type C Disease in Greece.

Authors:  Irene Mavridou; Evangelia Dimitriou; Marie T Vanier; Lluisa Vilageliu; Daniel Grinberg; Philippe Latour; Athina Xaidara; Lilia Lycopoulou; Sevasti Bostantjopoulou; Dimitrios Zafeiriou; Helen Michelakakis
Journal:  JIMD Rep       Date:  2017-01-20

4.  Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

Authors:  G Millat; C Marçais; M A Rafi; T Yamamoto; J A Morris; P G Pentchev; K Ohno; D A Wenger; M T Vanier
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

5.  Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.

Authors:  W L Greer; M J Dobson; G S Girouard; D M Byers; D C Riddell; P E Neumann
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

6.  Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

Authors:  X Sun; D L Marks; W D Park; C L Wheatley; V Puri; J F O'Brien; D L Kraft; P A Lundquist; M C Patterson; R E Pagano; K Snow
Journal:  Am J Hum Genet       Date:  2001-05-09       Impact factor: 11.025

Review 7.  Niemann-Pick disease type C.

Authors:  Marie T Vanier
Journal:  Orphanet J Rare Dis       Date:  2010-06-03       Impact factor: 4.123

8.  Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C.

Authors:  W L Greer; D C Riddell; D M Byers; J P Welch; G S Girouard; S M Sparrow; T L Gillan; P E Neumann
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

9.  Niemann-Pick disease: lipid storage in bone marrow macrophages.

Authors:  M Elleder; J Hrodek; J Cihula
Journal:  Histochem J       Date:  1983-11

10.  The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

Authors:  W L Greer; D C Riddell; T L Gillan; G S Girouard; S M Sparrow; D M Byers; M J Dobson; P E Neumann
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025
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