Literature DB >> 8411082

Autozygosity mapping, complex consanguinity, and autosomal recessive disorders.

R F Mueller, D T Bishop.   

Abstract

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Year:  1993        PMID： 8411082      PMCID： PMC1016549          DOI： 10.1136/jmg.30.9.798

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


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  9 in total

1.  Traces of her workings.

Authors:  G Duyk; J M Gastier; R F Mueller
Journal:  Nat Genet       Date:  1992-09       Impact factor: 38.330

Review 2.  Genetic epidemiology of hearing impairment.

Authors:  N E Morton
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

3.  The frequency of consanguineous marriage among British Pakistanis.

Authors:  A Darr; B Modell
Journal:  J Med Genet       Date:  1988-03       Impact factor: 6.318

4.  Sample-size considerations and strategies for linkage analysis in autosomal recessive disorders.

Authors:  F L Wong; R M Cantor; J I Rotter
Journal:  Am J Hum Genet       Date:  1986-07       Impact factor: 11.025

5.  Letter: A computer program to determine genetic risks: a simplified version of PEDIG (Heuch and Li, 1972).

Authors:  P M Conneally; I Heuch
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025

6.  Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

Authors:  N J Shaw; D Haigh; G T Lealmann; G Karbani; J T Brocklebank; M J Dillon
Journal:  Arch Dis Child       Date:  1991-10       Impact factor: 3.791

7.  Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.

Authors:  E S Lander; D Botstein
Journal:  Science       Date:  1987-06-19       Impact factor: 47.728

Review 8.  Familial microcephaly with normal intelligence in a patient with acute lymphoblastic leukemia.

Authors:  D Heney; R Mueller; G Turner; G Karbani; J Cadranel; I J Lewis; C C Bailey
Journal:  Cancer       Date:  1992-02-15       Impact factor: 6.860

9.  Difference between herpes simplex virus type 1 and type 2 neonatal encephalitis in neurological outcome.

Authors:  L Corey; R J Whitley; E F Stone; K Mohan
Journal:  Lancet       Date:  1988 Jan 2-9       Impact factor: 79.321
  9 in total
  10 in total

1.  Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.

Authors:  Marzieh Mojbafan; Seyed Hassan Tonekaboni; Maryam Abiri; Soudeh Kianfar; Ameneh Sarhadi; Yalda Nilipour; Javad Tavakkoly-Bazzaz; Sirous Zeinali
Journal:  J Mol Neurosci       Date:  2016-06-04       Impact factor: 3.444

Review 2.  Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

Authors:  C Geoffrey Woods; Jacquelyn Bond; Wolfgang Enard
Journal:  Am J Hum Genet       Date:  2005-03-31       Impact factor: 11.025

3.  Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.

Authors:  E Roberts; D J Hampshire; L Pattison; K Springell; H Jafri; P Corry; J Mannon; Y Rashid; Y Crow; J Bond; C G Woods
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

4.  Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication.

Authors:  Pavithra L Chavali; Lovorka Stojic; Luke W Meredith; Nimesh Joseph; Michael S Nahorski; Thomas J Sanford; Trevor R Sweeney; Ben A Krishna; Myra Hosmillo; Andrew E Firth; Richard Bayliss; Carlo L Marcelis; Susan Lindsay; Ian Goodfellow; C Geoffrey Woods; Fanni Gergely
Journal:  Science       Date:  2017-06-01       Impact factor: 47.728

5.  KinSNP software for homozygosity mapping of disease genes using SNP microarrays.

Authors:  El-Ad David Amir; Ofer Bartal; Efrat Morad; Tal Nagar; Jony Sheynin; Ruti Parvari; Vered Chalifa-Caspi
Journal:  Hum Genomics       Date:  2010-08       Impact factor: 4.639

6.  A simple and efficient algorithm for genome-wide homozygosity analysis in disease.

Authors:  Wei Liu; Jinhui Ding; Jesse Raphael Gibbs; Sue Jane Wang; John Hardy; Andrew Singleton
Journal:  Mol Syst Biol       Date:  2009-09-15       Impact factor: 11.429

7.  Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Authors:  Christopher M Watson; Laura A Crinnion; Juliana Gurgel-Gianetti; Sally M Harrison; Catherine Daly; Agne Antanavicuite; Carolina Lascelles; Alexander F Markham; Sergio D J Pena; David T Bonthron; Ian M Carr
Journal:  Hum Mutat       Date:  2015-07-22       Impact factor: 4.878

8.  Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.

Authors:  Neil V Morgan; Bryndis Yngvadottir; Mary O'Driscoll; Graeme R Clark; Diana Walsh; Ezequiel Martin; Louise Tee; Evan Reid; Hannah L Titheradge; Eamonn R Maher
Journal:  Brain Commun       Date:  2021-01-28

9.  HomozygosityMapper--an interactive approach to homozygosity mapping.

Authors:  Dominik Seelow; Markus Schuelke; Friedhelm Hildebrandt; Peter Nürnberg
Journal:  Nucleic Acids Res       Date:  2009-05-21       Impact factor: 16.971

10.  The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9.

Authors:  Jesús Aguirre-Hernández; Kaisa Wickström; David R Sargan
Journal:  BMC Vet Res       Date:  2007-07-10       Impact factor: 2.741
  10 in total

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