Literature DB >> 8940289

The Réunion paradox and the digenic model.

J S Beckmann.   

Abstract

Mesh：

Year:  1996        PMID： 8940289      PMCID： PMC1914887     

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


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  20 in total

1.  Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

Authors:  K Kajiwara; E L Berson; T P Dryja
Journal:  Science       Date:  1994-06-10       Impact factor: 47.728

Review 2.  Seeing double: appreciating genetic redundancy.

Authors:  F B Pickett; D R Meeks-Wagner
Journal:  Plant Cell       Date:  1995-09       Impact factor: 11.277

Review 3.  Thinking about genetic redundancy.

Authors:  J H Thomas
Journal:  Trends Genet       Date:  1993-11       Impact factor: 11.639

4.  Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.

Authors:  G Bach; S M Moskowitz; P T Tieu; A Matynia; E F Neufeld
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

5.  Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy.

Authors:  C H Wang; J Xu; T A Carter; B M Ross; M K Dominski; C A Bellcross; G K Penchaszadeh; T L Munsat; T C Gilliam
Journal:  Hum Mol Genet       Date:  1996-03       Impact factor: 6.150

6.  Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.

Authors:  K A Quane; J M Healy; K E Keating; B M Manning; F J Couch; L M Palmucci; C Doriguzzi; T H Fagerlund; K Berg; H Ording
Journal:  Nat Genet       Date:  1993-09       Impact factor: 38.330

7.  Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor.

Authors:  R Rozmahel; M Wilschanski; A Matin; S Plyte; M Oliver; W Auerbach; A Moore; J Forstner; P Durie; J Nadeau; C Bear; L C Tsui
Journal:  Nat Genet       Date:  1996-03       Impact factor: 38.330

8.  Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

Authors:  L M Mulligan; C Eng; T Attié; S Lyonnet; D J Marsh; V J Hyland; B G Robinson; A Frilling; C Verellen-Dumoulin; A Safar
Journal:  Hum Mol Genet       Date:  1994-12       Impact factor: 6.150

9.  Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms.

Authors:  S Hollán; H Fujii; A Hirono; K Hirono; H Karro; S Miwa; V Harsányi; E Gyódi; M Inselt-Kovács
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

10.  Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

Authors:  B Mercier; C Verlingue; W Lissens; S J Silber; G Novelli; M Bonduelle; M P Audrézet; C Férec
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
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  7 in total

1.  The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.

Authors:  I Aksentijevich; J Galon; M Soares; E Mansfield; K Hull; H H Oh; R Goldbach-Mansky; J Dean; B Athreya; A J Reginato; M Henrickson; B Pons-Estel; J J O'Shea; D L Kastner
Journal:  Am J Hum Genet       Date:  2001-07-06       Impact factor: 11.025

2.  DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.

Authors:  V M Pratt; C E Jackson; D C Wallace; D S Gurley; A Feit; G L Feldman
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

3.  Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.

Authors:  Ali Amar; Amar J Majmundar; Ihsan Ullah; Ayesha Afzal; Daniela A Braun; Shirlee Shril; Ankana Daga; Tilman Jobst-Schwan; Mumtaz Ahmad; John A Sayer; Heon Yung Gee; Jan Halbritter; Thomas Knöpfel; Nati Hernando; Andreas Werner; Carsten Wagner; Shagufta Khaliq; Friedhelm Hildebrandt
Journal:  Hum Genet       Date:  2019-02-18       Impact factor: 4.132

4.  Clan genomics: From OMIM phenotypic traits to genes and biology.

Authors:  James R Lupski
Journal:  Am J Med Genet A       Date:  2021-08-18       Impact factor: 2.802

5.  Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

Authors:  Amelie T van der Ven; Dervla M Connaughton; Hadas Ityel; Nina Mann; Makiko Nakayama; Jing Chen; Asaf Vivante; Daw-Yang Hwang; Julian Schulz; Daniela A Braun; Johanna Magdalena Schmidt; David Schapiro; Ronen Schneider; Jillian K Warejko; Ankana Daga; Amar J Majmundar; Weizhen Tan; Tilman Jobst-Schwan; Tobias Hermle; Eugen Widmeier; Shazia Ashraf; Ali Amar; Charlotte A Hoogstraaten; Hannah Hugo; Thomas M Kitzler; Franziska Kause; Caroline M Kolvenbach; Rufeng Dai; Leslie Spaneas; Kassaundra Amann; Deborah R Stein; Michelle A Baum; Michael J G Somers; Nancy M Rodig; Michael A Ferguson; Avram Z Traum; Ghaleb H Daouk; Radovan Bogdanović; Natasa Stajić; Neveen A Soliman; Jameela A Kari; Sherif El Desoky; Hanan M Fathy; Danko Milosevic; Muna Al-Saffar; Hazem S Awad; Loai A Eid; Aravind Selvin; Prabha Senguttuvan; Simone Sanna-Cherchi; Heidi L Rehm; Daniel G MacArthur; Monkol Lek; Kristen M Laricchia; Michael W Wilson; Shrikant M Mane; Richard P Lifton; Richard S Lee; Stuart B Bauer; Weining Lu; Heiko M Reutter; Velibor Tasic; Shirlee Shril; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2018-08-24       Impact factor: 10.121

6.  Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

Authors:  M P Sperandeo; M T Bassi; M Riboni; G Parenti; A Buoninconti; M Manzoni; B Incerti; M R Larocca; M Di Rocco; P Strisciuglio; I Dianzani; R Parini; M Candito; F Endo; A Ballabio; G Andria; G Sebastio; G Borsani
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

7.  Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

Authors:  Carlos A Pantoja-Melendez; Antonio Miranda-Duarte; Bladimir Roque-Ramirez; Juan C Zenteno
Journal:  PLoS One       Date:  2017-01-19       Impact factor: 3.240
  7 in total

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