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Dive into the research topics where Joseph Nahmias is active.

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Featured researches published by Joseph Nahmias.


Human Genetics | 1997

Towards a unified nomenclature describing voltage-gated calcium channel genes

Philippe Lory; Roel A. Ophoff; Joseph Nahmias

Abstract A unified nomenclature for describing voltage-gated calcium channel genes is proposed. The terminology has been approved by the HUGO/GDB nomenclature committee.


European Journal of Human Genetics | 1995

Cosmid contigs spanning 9q34 including the candidate region for TSC1.

Joseph Nahmias; Nick Hornigold; Jude Fitzgibbon; Karen Woodward; Alison Pilz; Darren K. Griffin; Elizabeth P. Henske; Yusuke Nakamura; Sharon Graw; Fiorella Florian; Frances Benham; Sue Povey; Jonathan Wolfe

The tuberous sclerosis disease gene TSC1 has been mapped to 9q34. However, its precise localisation has proved problematic because of conflicting recombination data. Therefore, we have attempted to clone the entire target area into cosmid contigs prior to gene isolation studies. We have used Alu-PCR from irradiation hybrids to produce complex probes from the target region which have identified 1,400 cosmids from a chromosome-specific library. These, along with cosmids obtained by other methods, have been assembled into contigs by a fingerprinting technique. We estimate that we have obtained most of the region in cosmid contigs. These cosmids are a resource for the isolation of expressed genes within the TSC1 interval. In addition, the cosmid contig assembly has demonstrated a number of previously unknown physical connections between genes and markers in 9q34.


Science | 1997

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

Marjon van Slegtenhorst; Ronald de Hoogt; C. J. Hermans; Mark Nellist; Bart Janssen; Senno Verhoef; Dick Lindhout; Ans van den Ouweland; Dicky Halley; Janet Young; Mari-Wyn Burley; S. Jeremiah; Karen Woodward; Joseph Nahmias; Margaret Fox; Rosemary Ekong; John P Osborne; Jonathan Wolfe; Sue Povey; Russell G. Snell; Jeremy Peter Cheadle; Alistair C. Jones; Maria Tachataki; David Ravine; Julian Roy Sampson; Mary Pat Reeve; Paul G. Richardson; Friederike Wilmer; Cheryl Munro; Trevor Hawkins


American Journal of Human Genetics | 1996

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

Elizabeth P. Henske; Bernd W. Scheithauer; M. P. Short; Robert L. Wollmann; Joseph Nahmias; Nick Hornigold; M. van Slegtenhorst; C. T. Welsh; David J. Kwiatkowski


Genomics | 1998

Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity.

Gabriel Kremmidiotis; Elizabeth Baker; Joanna Crawford; Helen J. Eyre; Joseph Nahmias; David F. Callen


Genomics | 1997

Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee.

Julia White; P.J. McAlpine; Howard M. Cann; J. T. Eppig; K. Frazer; J. Frezal; Doron Lancet; Joseph Nahmias; Peter L. Pearson; Josephine Peters; Alan F. Scott; Hamish S. Scott; N. Spurr; C. Conover Talbot; S. Povey


Genomics | 1996

A human gene (DDX10) encoding a putative DEAD-box RNA helicase at 11q22-q23

Kinneret Savitsky; Yael Ziv; Anat Bar-Shira; Shlomit Gilad; Danilo A. Tagle; Sara Smith; Tamar Uziel; Sharon Sfez; Joseph Nahmias; Adam Sartiel; Roger L. Eddy; Thomas B. Shows; Francis S. Collins; Yosef Shiloh; Galit Rotman


Human Molecular Genetics | 1992

A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine β-hydroxylase locus

Joseph Nahmias; Mari-Wyn Burley; Sue Povey; Chris Porter; Ian Craig; Jonathan Wolfe


Genomics | 1997

A 1.7-Megabase Sequence-Ready Cosmid Contig Covering the TSC1 Candidate Region in 9q34

Nick Hornigold; M. van Slegtenhorst; Joseph Nahmias; Rosemary Ekong; S. Rousseaux; C. J. Hermans; D. J. J. Halley; S. Povey; Jonathan Wolfe


Nucleic Acids Research | 1992

Dinucleotide repeat polymorphism at the human dopamine β-hydroxylase (DBH) locus

C.J. Porter; Joseph Nahmias; Jonathan Wolfe; I.W. Craig

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Jonathan Wolfe

University College London

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Nick Hornigold

University College London

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Karen Woodward

University College London

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Sue Povey

University College London

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C. J. Hermans

Erasmus University Rotterdam

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M. van Slegtenhorst

Erasmus University Rotterdam

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Alison Pilz

University College London

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Frances Benham

University College London

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Jude Fitzgibbon

Queen Mary University of London

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Mari-Wyn Burley

University College London

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