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Akademický článek
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Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 70:65-69
OBJECTIVES—The syndrome of X-linked sideroblastic anaemia with ataxia is rare, described only twice in the literature. The aim was to obtain clinical neurological and haematological data about this rare syndrome throughout adult life. METHODS—A f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b8bb7aafd1ceb232dadcdb2373c59d6
https://doi.org/10.1136/jnnp.70.1.65
https://doi.org/10.1136/jnnp.70.1.65
Autor:
N Dennis, E Hatchwell
Publikováno v:
Journal of Medical Genetics. 33:426-428
We report a girl with mirror hands and feet and associated groove of the nasal columella. She represents only the sixth reported case of this spectrum of congenital anomalies,first reported by Laurin and Sandrow.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e80877d06aaa9d9060811620ae39d40
https://doi.org/10.1136/jmg.33.5.426
https://doi.org/10.1136/jmg.33.5.426
Editor—The proband was a male infant born to a 28 year old mother and 24 year old father. The parents were healthy and non-consanguineous. There was no significant family history. The pregnancy was complicated by intrauterine growth retardation. At
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af79212b9ba3f1963de2b47395b98121
https://europepmc.org/articles/PMC1734665/
https://europepmc.org/articles/PMC1734665/
BACKGROUND/AIMS—Congenital fibrosis of the extraocular muscles (CFEOM) is an autosomal dominant, non-progressive disorder characterised by congenital ptosis and external ophthalmoplegia. CFEOM has previously been divided into several clinical entit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6926c4e4b37387f5ece97639de52abce
https://europepmc.org/articles/PMC1722617/
https://europepmc.org/articles/PMC1722617/
Autor:
C McKeown, Giuseppe Novelli, A J Green, Judith A. Goodship, D I Wilson, Robin M. Winter, B Belohradsky, E Hatchwell, A. Levy, Alain Aurias, H Seidel, F L Raymond, Karen Brøndum-Nielsen, H Oechsler, Nicole Philip, Jane A. Hurst, M Prieur, Louise Brueton, Frits A. Beemer, Peter J. Scambler, Bruno Dallapiccola, Jill Clayton-Smith, A K Ryan, S Schuffenhauer, J Ignatius
We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inhe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cda784b4f88516d1bbe4dc8d73c9a6ce
https://europepmc.org/articles/PMC1051084/
https://europepmc.org/articles/PMC1051084/
Autor:
B. A. Leatherdale, John C K Barber, M. M. Power, D. E. H. Flanagan, Andrew M. Fisher, R. S. James, Peter J. Wood, E. Hatchwell
Publikováno v:
Journal of medical genetics. 34(4)
Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, obesity, and mental retardation. Variable biochemical changes many represent either pseudohypoparathyroid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae391510d307f9ef0680b097f498197
https://pubmed.ncbi.nlm.nih.gov/9138150
https://pubmed.ncbi.nlm.nih.gov/9138150
X inactivation analysis was performed on normal and hypopigmented skin samples obtained from a female with hypomelanosis of Ito associated with a balanced whole arm X;17 translocation. Severe skewing of X inactivation resulting in inactivity of the i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a62c142a619c23d6046c47414f7dbbee
https://europepmc.org/articles/PMC1051870/
https://europepmc.org/articles/PMC1051870/
Autor:
E Hatchwell
Hypomelanosis of Ito is a sporadic multisystem disorder known to be associated in many cases with chromosomal mosaicism. While no particular pattern is generally evident for the specific chromosomes involved in such patients, a subgroup of female pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8e667ecb053e026475291ff32975e5f
https://europepmc.org/articles/PMC1051863/
https://europepmc.org/articles/PMC1051863/