J
James F. Reynolds
Researcher at Monash University
Publications - 561
Citations - 19998
James F. Reynolds is an academic researcher from Monash University. The author has contributed to research in topics: Prenatal diagnosis & Chromosomal translocation. The author has an hindex of 65, co-authored 559 publications receiving 19506 citations. Previous affiliations of James F. Reynolds include Monash University, Clayton campus & Boston Children's Hospital.
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Journal ArticleDOI
International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986.
Peter Beighton,A. De Paepe,David M. Danks,G. Finidori,T. Gedde-Dahl,R. M. Goodman,Judith G. Hall,David W. Hollister,William A. Horton,Victor A. McKusick,John M. Opitz,F. M. Pope,Reed E. Pyeritz,David L. Rimoin,David Sillence,J. Spranger,Elizabeth Thompson,Petros Tsipouras,Denis Viljoen,Ingrid Winship,I. D. Young,James F. Reynolds +21 more
TL;DR: A group of experts participated in a Workshop held during the 7th International Congress of Human Genetics, Berlin, in September, 1986 as discussed by the authors, where overviews were given of the uses and limitations of nosology, diagnostic criteria (Pyeritz), and practical issues in biochemical and molecular diagnosis.
Journal ArticleDOI
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.
J. H. M. Knoll,J. H. M. Knoll,Robert D. Nicholls,Robert D. Nicholls,R. E. Magenis,John M. Graham,Marc Lalande,Samuel A. Latt,Samuel A. Latt,John M. Opitz,James F. Reynolds +10 more
TL;DR: Maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs) and the molecular deletions between AS and those previously reported for PWS did not appear to differ.
Journal ArticleDOI
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
Norio Niikawa,Yoshikazu Kuroki,Tadashi Kajii,Nobuo Matsuura,Satoshi Ishikiriyama,Hidefumi Tonoki,Nobuyoshi Ishikawa,Yutaka Yamada,Masafumi Fujita,Hidehiko Umemoto,Yoshihiko Iwama,Ikuko Kondoh,Yoshimitsu Fukushima,Yasushi Nako,Ichiro Matsui,Tatsuhiko Urakami,Sekoiya Aritaki,Michiko Hara,Yasuyuki Suzuki,Hiroyuki Chyo,Yoshitsugu Sugio,Tomoko Hasegawa,Tsutomu Yamanaka,Ryuichi Tsukino,Akira Yoshida,Naoki Nomoto,Satomi Kawahito,Ryozo Aihara,Shigeki Toyota,Atsushi Ieshima,Hiromu Funaki,Kazuyuki Ishitobi,Satoshi Ogura,Toshiaki Furumae,Makoto Yoshino,Yoshiro Tsuji,Tatsuro Kondoh,Tadashi Matsumoto,Kyohko Abe,Naoki Harada,Teruhisa Miike,Shozo Ohdo,Kenji Naritomi,A. K. Abushwereb,O. H. Braun,Erich Schmid,John M. Opitz,James F. Reynolds +47 more
TL;DR: These 62 patients with the Kabuki make-up syndrome were collected in a collaborative study among 33 institutions and analyzed clinically, cytogenetically, and epidemiologically to delineate the phenotypic spectrum and to learn about its cause.
Journal ArticleDOI
Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence
TL;DR: A four-stage construction is presented for illustrating the characteristic clinical pattern and profile over the years in the average, 'classical' rett syndrome (RS) patient.
Journal ArticleDOI
Interstitial deletion of (17)(p11.2p11.2) in nine patients
Ann C. M. Smith,Loris McGavran,Jeannie Robinson,Gail Waldstein,Jean Macfarlane,Jon Zonona,Jacob A. Reiss,Martin Lahr,L. Allen,Ellen Magenis,John M. Opitz,James F. Reynolds +11 more
TL;DR: A new and distinct syndrome involving an interstitial deletion of short arm of chromosome 17 in nine unrelated patients ranging in age from 3 months to 65 years is described.