Literature DB >> 7942849

Non-Mendelian transmission in a human developmental disorder: split hand/split foot.

G P Jarvik1, M A Patton, T Homfray, J P Evans.   

Abstract

The study of Mendelian disorders that do not meet some Mendelian expectations has led to an increased understanding of such previously obscure genetic phenomena as anticipation. Split hand/split foot (SHSF), a human developmental malformation, demonstrates such distinctive genetic features as reduced penetrance and variable expressivity. In this study, new pedigrees with defined ascertainment confirm the existence of non-Mendelian transmission characterized by the overtransmission of SHSF from affected fathers to sons.

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Mesh：

Year:  1994        PMID： 7942849      PMCID： PMC1918285     

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


  14 in total

1.  Ectrodactyly--evidence in favour of a disturbed segregation in the offspring of affected males.

Authors:  A C STEVENSON; L M JENNINGS
Journal:  Ann Hum Genet       Date:  1960-04       Impact factor: 1.670

2.  Meiotic Drive in Natural Populations of Drosophila Melanogaster. I. the Cytogenetic Basis of Segregation-Distortion.

Authors:  L Sandler; Y Hiraizumi; I Sandler
Journal:  Genetics       Date:  1959-03       Impact factor: 4.562

Review 3.  Segregation distorters.

Authors:  T W Lyttle
Journal:  Annu Rev Genet       Date:  1991       Impact factor: 16.830

4.  Genetic dissection of segregation distortion II. Mechanism of suppression of distortion by certain inversions.

Authors:  D L Hartl
Journal:  Genetics       Date:  1975-07       Impact factor: 4.562

5.  Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.

Authors:  S E Palmer; S W Scherer; M Kukolich; E M Wijsman; L C Tsui; K Stephens; J P Evans
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

6.  On the components of segregation distortion in Drosophila melanogaster. III. Nature of enhancer of SD.

Authors:  J G Brittnacher; B Ganetzky
Journal:  Genetics       Date:  1984-07       Impact factor: 4.562

7.  An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

Authors:  Y H Fu; A Pizzuti; R G Fenwick; J King; S Rajnarayan; P W Dunne; J Dubel; G A Nasser; T Ashizawa; P de Jong
Journal:  Science       Date:  1992-03-06       Impact factor: 47.728

8.  Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Authors:  H G Harley; J D Brook; S A Rundle; S Crow; W Reardon; A J Buckler; P S Harper; D E Housman; D J Shaw
Journal:  Nature       Date:  1992-02-06       Impact factor: 49.962

9.  Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Authors:  J Buxton; P Shelbourne; J Davies; C Jones; T Van Tongeren; C Aslanidis; P de Jong; G Jansen; M Anvret; B Riley
Journal:  Nature       Date:  1992-02-06       Impact factor: 49.962

Review 10.  The peculiar journey of a selfish chromosome: mouse t haplotypes and meiotic drive.

Authors:  L M Silver
Journal:  Trends Genet       Date:  1993-07       Impact factor: 11.639
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  10 in total

1.  Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.

Authors:  R S Ozen; B E Baysal; B Devlin; J E Farr; M Gorry; G D Ehrlich; C W Richard
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

2.  Why study human limb malformations?

Authors:  Andrew O M Wilkie
Journal:  J Anat       Date:  2003-01       Impact factor: 2.610

3.  Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.

Authors:  A Girardet; M S McPeek; E P Leeflang; F Munier; N Arnheim; M Claustres; F Pellestor
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

4.  FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability.

Authors:  J W Teague; N E Morton; N R Dennis; G Curtis; N McKechnie; J N Macpherson; A Murray; M C Pound; A J Sharrock; S A Youings; P A Jacobs
Journal:  Proc Natl Acad Sci U S A       Date:  1998-01-20       Impact factor: 11.205

5.  Bilateral split hand/foot malformation and inv(7)(p22q21.3).

Authors:  J M Cobben; J B Verheij; W H Eisma; P H Robinson; R P Zwierstra; B Leegte; S Castedo
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

6.  Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.

Authors:  T Ikeuchi; S Igarashi; Y Takiyama; O Onodera; M Oyake; H Takano; R Koide; H Tanaka; S Tsuji
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

7.  Phenotypic subregions within the split-hand/foot malformation 1 locus.

Authors:  Malene B Rasmussen; Sven Kreiborg; Per Jensen; Mads Bak; Yuan Mang; Marianne Lodahl; Esben Budtz-Jørgensen; Niels Tommerup; Lisbeth Tranebjærg; Nanna D Rendtorff
Journal:  Hum Genet       Date:  2016-02-02       Impact factor: 4.132

8.  Direct Gamete Sequencing Reveals No Evidence for Segregation Distortion in House Mouse Hybrids.

Authors:  Russell Corbett-Detig; Emily Jacobs-Palmer; Daniel Hartl; Hopi Hoekstra
Journal:  PLoS One       Date:  2015-06-29       Impact factor: 3.240

9.  Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing.

Authors:  Panayiota Papasozomenou; Ioannis Papoulidis; Themistoklis Mikos; Menelaos Zafrakas
Journal:  Curr Genomics       Date:  2019-04       Impact factor: 2.236

Review 10.  Split-hand/foot malformation - molecular cause and implications in genetic counseling.

Authors:  Anna Sowińska-Seidler; Magdalena Socha; Aleksander Jamsheer
Journal:  J Appl Genet       Date:  2013-10-27       Impact factor: 3.240
  10 in total

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