Zobrazeno 1 - 10
of 61
pro vyhledávání: '"R J M Gardner"'
Autor:
Stephen P. Robertson, Kelly A. Glendining, Elizabeth A. Franz, Christine L. Jasoni, David Markie, R. J. M. Gardner
Publikováno v:
Scientific Reports
Mutations in RAD51 have recently been linked to human Congenital Mirror Movements (CMM), a developmental disorder of the motor system. The only gene previously linked to CMM encodes the Netrin-1 receptor DCC, which is important for formation of corti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2710aaf499bba59acf1fe7284b7d720
Autor:
Oliver Sisson, Christian J. Lueck, R J M Gardner, Michael C Fahey, Melanie Bahlo, Elsdon Storey
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 80:408-411
The spinocerebellar ataxias (SCAs) are clinically and genetically heterogeneous. Currently, 27 forms are known, with the causative gene identified in 16. Although the majority of dominant pedigrees worldwide have SCAs 1, 2, 3, 6 or 8, new SCAs contin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ec08e58635fc8c4f7e660eeade28e75
https://doi.org/10.1136/jnnp.2008.159459
https://doi.org/10.1136/jnnp.2008.159459
Publikováno v:
Clinical Genetics. 6:383-393
Six index cases with a 1q+ chromosome are described, and the literature is reviewed. It is suggested that 1q+ chromosomes may sometimes be pathogenic, and that one manifestation of this may be a condition closely resembling Patau's and Meckel's syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0de74343919adb054f851ac46cfc8965
https://doi.org/10.1111/j.1399-0004.1974.tb02261.x
https://doi.org/10.1111/j.1399-0004.1974.tb02261.x
Publikováno v:
Clinical Genetics. 30:466-470
The case is reported of a child with the karyotype 46,XY,r(21), who presented with linear growth retardation but who appears, at age 2 years 8 months, to be developing normally mentally. There is a small number of reports of mildly affected cases of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be754a46f275aee84478679a14c7a4ae
https://doi.org/10.1111/j.1399-0004.1986.tb01912.x
https://doi.org/10.1111/j.1399-0004.1986.tb01912.x
Autor:
R. J. M. Gardner
Publikováno v:
Clinical Genetics. 11:31-38
An estimate is derived of the mutation of achondroplasia based upon the accumulated data of recent newborn studies in four cities. In a total of 242,257 births, seven infants had mutant achondroplasia, the diagnosis being confirmed radiologically in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a598d12e497301b5d516fedf9c09526
https://doi.org/10.1111/j.1399-0004.1977.tb01274.x
https://doi.org/10.1111/j.1399-0004.1977.tb01274.x
Publikováno v:
Clinical Genetics. 23:311-317
A large Indian kindred in which the fragile X chromosome is segregating has been investigated in Cape Town. Eight male hemizygotes and four female heterozygotes were mentally retarded. There is suggestive evidence that one deceased male of reportedly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f931ff770cfd9d9ac1b7e9c933f60ca
https://doi.org/10.1111/j.1399-0004.1983.tb01883.x
https://doi.org/10.1111/j.1399-0004.1983.tb01883.x
Autor:
Agnes Bankier, George McGillivray, Timothy C. Cox, R. J. M. Gardner, Tony Roscioli, Ravi Savarirayan, Shireen R. Lamandé, C Stojkoski, John F. Bateman, Robyn McNeil
Publikováno v:
Journal of Medical Genetics. 42:656-662
Characteristic deformities of skull shape occur as a result of different patterns of sutural fusion, while compen- satory skull expansion occurs at unaffected sutures to accommodate the growing brain. Premature fusion of the sagittal suture, for exam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6a275b83cdfe683ea4d05c7c4cc3e4
https://doi.org/10.1136/jmg.2004.027888
https://doi.org/10.1136/jmg.2004.027888
Publikováno v:
Clinical Dysmorphology. 10:203-208
We describe two children with a brain defect similar to that described as 'microlissencephaly', as defined in Barkovich et aL [(1998) Neuroped 29: 113-119]. Concomitant malformations (cardiac, spinal, urogenital) may represent components of a wider s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03f988e53d2f96bb4d95902cfa24c511
https://doi.org/10.1097/00019605-200107000-00010
https://doi.org/10.1097/00019605-200107000-00010
Autor:
R. J. M. Gardner, M. J. Nowotny, A. S. Harvey, Lee Coleman, Elsdon Storey, R. A. Sloane, L. J. Smith, Ingrid E. Scheffer, L. A. Mitchell, Lionel Lubitz
Publikováno v:
Neuropediatrics. 32:62-68
We report five cases of near-total absence of the cerebellum with accompanying pontine hypoplasia. The cerebellar remnant in each case comprised only antero-superior masses, the posterior fossa being otherwise fluid filled. Three of these patients, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d357e87ef8d95e546593ade4f514903
https://doi.org/10.1055/s-2001-13882
https://doi.org/10.1055/s-2001-13882
Publikováno v:
American Journal of Medical Genetics. 99:29-33
Cerebellar ataxia and hypergonadotropic hypogonadism comprise a rare and presumably heterogeneous association. Inheritance in most cases appears to be autosomal recessive, and associated features include deafness, intellectual impairment, and neuropa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::65784f82804d226208b3d127f8b951ad
https://doi.org/10.1002/1096-8628(20010215)99:1<29::aid-ajmg1119>3.0.co
https://doi.org/10.1002/1096-8628(20010215)99:1<29::aid-ajmg1119>3.0.co