Robert Gardner

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R Lamande, Ravi Savarirayan

Journal article  |  2011  |  ORPHANET JOURNAL OF RARE DISEASES

BACKGROUND: The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli an..

Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual Outcome

D Coman, RJM Gardner, MD Pertile, P Kannu

Journal article  |  2010  |  FETAL DIAGNOSIS AND THERAPY

The identification of trisomy mosaicism in the prenatal setting is often shrouded with uncertainty for the genetic counsellor, and..

A new dominantly inherited pure cerebellar ataxia, SCA 30

E Storey, M Bahlo, M Fahey, O Sisson, CJ Lueck, RJM Gardner

Journal article  |  2009  |  JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

BACKGROUND: The spinocerebellar ataxias (SCAs) are clinically and genetically heterogeneous. Currently, 27 forms are known, with t..

Deletions that reveal recessive genes

David J Coman, RJ McKinlay Gardner

Journal article  |  2007  |  EUROPEAN JOURNAL OF HUMAN GENETICS

MURCS and thenar hypoplasia

RJ McKinlay Gardner, Mark P Umstad, Lyndon G Hale

Journal article  |  2007  |  CLINICAL DYSMORPHOLOGY

We describe the case of a woman with some features of the MURCS (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite..

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin, Dena Hernandez, Javier Simon-Sanchez, Nick W Wood, Paola Giunti, Ian Rafferty, John Hardy, Elsdon Storey, RJ McKinlay Gardner, Susan M Forrest, Elizabeth MC Fisher, et al.

Journal article  |  2007  |  PLOS GENETICS

We observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments ..

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

G McGillivray, R Savarirayan, TC Cox, C Stojkoski, R McNeil, A Bankier, JF Bateman, T Roscioli, RJM Gardner, SR Lamande

Journal article  |  2005  |  JOURNAL OF MEDICAL GENETICS

Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent

A Vinton, MC Fahey, TJ O'Brien, J Shaw, E Storey, RJM Gardner, PJ Mitchell, D Du Sart, JO King

Journal article  |  2005  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

We report a three-generation Caucasian family of Macedonian origin with dentatorubral-pallidoluysian atrophy (DRPLA), manifesting ..

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

B Schule, M Albalwi, E Northrop, DI Francis, M Rowell, HR Slater, RJM Gardner, U Francke

Journal article  |  2005  |  BMC MEDICAL GENETICS

BACKGROUND: Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of m..

Severe fetal brain dysgenesis with focal calcification

RJM Gardner, CW Chow, I Simpson, AM Fink, SE Meagher, SM White

Journal article  |  2005  |  PRENATAL DIAGNOSIS

OBJECTIVE: To describe a fetal syndrome of abnormal brain development with intracranial calcification, identified in three success..