J
J. Goulding
Researcher at University College London
Publications - 5
Citations - 1105
J. Goulding is an academic researcher from University College London. The author has contributed to research in topics: Gene mapping & Contig. The author has an hindex of 5, co-authored 5 publications receiving 1053 citations.
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Journal ArticleDOI
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
Fiona Francis,Steffen Hennig,Bernhard Korn,Richard Reinhardt,P. de Jong,A.-M. Poustka,Hans Lehrach,Peter S. N. Rowe,J. Goulding,Tina C. Summerfield,Roger Mountford,Andrew P. Read,Ewa Popowska,Ewa Pronicka,Kay E. Davies,J. L. H. O'Riordan,Michael J. Econs,Teresa Nesbitt,Marc K. Drezner,C. Oudet,Solange Pannetier,André Hanauer,Tim M. Strom,Alfons Meindl,Bettina Lorenz,B. Cagnoli,Klaus Mohnike,Jan Murken,Thomas Meitinger +28 more
TL;DR: Intragenic non–overlapping deletions from four different families and three mutations have been detected in HYP patients, which suggest that the PEX gene is involved in the HYP disorder.
Journal ArticleDOI
The gene for X-linked hypophosphataemic rickets maps to a 200–300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE)
Peter S. N. Rowe,J. Goulding,Fiona Francis,C. Oudet,Michael J. Econs,André Hanauer,Hans Lehrach,Andrew P. Read,Roger Mountford,Tina C. Summerfield,Jean Weissenbach,William D. Fraser,Marc K. Drezner,Kay E. Davies,J. L. H. O'Riordan +14 more
TL;DR: The location of the HYP gene, which determines X-linked hypophosphataemic rickets, has been refined considerably by linkage analysis, and three new microsatellite primers isolated, Cap32, Cap29 and Cap32 and 7v2 (DXS7473), and four other markers have been determined.
Journal ArticleDOI
Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-22.2).
Peter S. N. Rowe,J. Goulding,Andrew P. Read,Hans Lehrach,Fiona Francis,André Hanauer,C. Oudet,Valérie Biancalana,S. W. Kooh,Kay E. Davies,J.L.H. O'Riordan +10 more
TL;DR: Combining the genetic and physical data, it is able to propose the following gene marker order: Xptel-DXS43- DXS197-DXM163yh2, DXS999-DX s443-DXs443-[(DXS365-AFM163Yh2), HYP]-DXS274-DX S41-Xcen.
Journal ArticleDOI
New markers for linkage analysis of X-linked hypophosphataemic rickets
Peter S. N. Rowe,J. Goulding,Andrew P. Read,Roger Mountford,A. Hanauer,C. Oudet,Michael P. Whyte,S. Meier-Ewert,Hans Lehrach,Kay E. Davies,J.L.H. O'Riordan +10 more
TL;DR: Three polymorphic markers have been used to improve the genetic map of the region Xp22.1- p22.2, which contains the HYP (hypophosphataemic rickets) locus, and a consideration of key recombinants and multilocus analysis suggests the gene order.