Literature DB >> 3285008

A family showing apparent X linked inheritance of both anencephaly and spina bifida.

O Jensson1, A Arnason, H Gunnarsdottir, I Petursdottir, R Fossdal, S Hreidarsson.   

Abstract

A family is reported which includes five males, two with spina bifida, two sibs with anencephaly, and one with both high and low spinal lesions. The affected subjects came from four sibships in three generations. The mode of inheritance of these neural tube defects is consistent with X linkage.

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Year:  1988        PMID： 3285008      PMCID： PMC1015501          DOI： 10.1136/jmg.25.4.227

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


  16 in total

1.  The sex ratio in spina bifida.

Authors:  W H James
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318

2.  Epidemiologic and genetic study of cleft lip and palate in Iceland.

Authors:  P Moller
Journal:  Ala J Med Sci       Date:  1972-04

3.  Spina bifida cystica. Incidence of spina bifida occulta in parents and in controls.

Authors:  J Lorber; K Levick
Journal:  Arch Dis Child       Date:  1967-04       Impact factor: 3.791

4.  The sex ratio in anencephaly.

Authors:  W H James
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

5.  Brief clinical report: neural tube defects as an X-linked condition.

Authors:  M Baraitser; J Burn
Journal:  Am J Med Genet       Date:  1984-01

6.  Spina bifida cystica families x-ray examination and HLA typing.

Authors:  J P Vannier; J Lefort; B Cavelier; P Ledosseur; C Assailly; J Feingold
Journal:  Pediatr Res       Date:  1981-04       Impact factor: 3.756

7.  Central nervous system malformations in the Kraków region. II. Case control studies on the human leukocyte antigen genotype and haplotype frequencies.

Authors:  J J Pietrzyk; G Turowski; B Rózański
Journal:  Am J Med Genet       Date:  1984-05

8.  Linkage of an X-chromosome cleft palate gene.

Authors:  G E Moore; A Ivens; J Chambers; M Farrall; R Williamson; D C Page; A Bjornsson; A Arnason; O Jensson
Journal:  Nature       Date:  1987 Mar 5-11       Impact factor: 49.962

9.  Phenotypic heterogeneity in neural tube defects: a clue to causal heterogeneity.

Authors:  R A Martin; R M Fineman; L B Jorde
Journal:  Am J Med Genet       Date:  1983-12

10.  Brief communication: possible X-linked anencephaly and spina bifida--report of a kindred.

Authors:  H V Toriello; S T Warren; J A Lindstrom
Journal:  Am J Med Genet       Date:  1980
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  6 in total

Review 1.  Molecular approaches to dysmorphology.

Authors:  A Ivens; G Moore; R Williamson
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

Review 2.  Genetic epidemiology of neural tube defects.

Authors:  Philip J Lupo; A J Agopian; Heidi Castillo; Jonathan Castillo; Gerald H Clayton; Nienke P Dosa; Betsy Hopson; David B Joseph; Brandon G Rocque; William O Walker; John S Wiener; Laura E Mitchell
Journal:  J Pediatr Rehabil Med       Date:  2017-12-11

3.  Novel RFLPs and microsatellite repeats increase informativity at four loci mapping to Xq22-q25.

Authors:  R Newton; P Stanier; S Forbes; G E Moore
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

4.  Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family.

Authors:  F A Hol; M P Geurds; O Jensson; B C Hamel; G E Moore; R Newton; E C Mariman
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

5.  Sex ratios of affected and transmitting members of multiple case families with neural tube defects.

Authors:  E C Mariman; B C Hamel
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

6.  Absence of linkage between familial neural tube defects and PAX3 gene.

Authors:  S Chatkupt; F A Hol; Y Y Shugart; M P Geurds; E S Stenroos; M R Koenigsberger; B C Hamel; W G Johnson; E C Mariman
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318
  6 in total

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