Zobrazeno 1 - 10
of 19
pro vyhledávání: '"P W, Lunt"'
Autor:
A. L. Meredith, Y. Patel, N. K. Hamilton, C. R. K. Dudley, C. Dolling, A. Gardner, P. W. Lunt, A. Connor
Publikováno v:
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons. 8(1)
Patients with end-stage renal disease (ESRD) secondary to autosomal dominant polycystic kidney disease (ADPKD) receive fewer living-related kidney (LRK) transplants than other groups with ESRD. This relates to the difficulties in excluding the diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5378cd5460683e361a3251aca4d7660
https://pubmed.ncbi.nlm.nih.gov/17973957
https://pubmed.ncbi.nlm.nih.gov/17973957
Editor—We report two sibs with an unbalanced translocation of chromosomes 2 and 10 resulting in distal 2p trisomy. We feel that this sib pair could help to delineate the common features that may result from duplication of this specific region, in p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f82e4405dbc9a7ab380a9b27280fd5b
https://europepmc.org/articles/PMC1734504/
https://europepmc.org/articles/PMC1734504/
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 3(2)
Five patients with severe spinal muscular atrophy (SMA) type I, all of whom presented with reduced fetal movements in utero, severe weakness at birth, and short survival time were assessed to attempt to determine whether their phenotype could be expl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3748d051c6638f4191985497b6e48daf
https://pubmed.ncbi.nlm.nih.gov/10700538
https://pubmed.ncbi.nlm.nih.gov/10700538
Autor:
D M Eccles, Y Wallis, S McKay, D Morton, P W Lunt, F MacDonald, M Griffiths, B Sandhu, J Shea-Simonds
Publikováno v:
Archives of disease in childhood. 77(5)
Familial adenomatous polyposis (FAP) is a dominantly inherited predisposition to the development of many hundreds to thousands of adenomatous polyps of the colon. The mean age of onset is around 15 years, symptoms may arise in the third decade, and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15521ad188ab7d5fd4b56c9dbfb539b8
https://pubmed.ncbi.nlm.nih.gov/9487968
https://pubmed.ncbi.nlm.nih.gov/9487968
A 7 year old boy is described with moderate learning disability, facial dysmorphism, and a de novo duplication of chromosome 2 (q11.2-q21). There are few published reports of proximal 2q duplication, and none reporting direct de novo duplication for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f523e076409f0f79f69587f26bb74171
https://europepmc.org/articles/PMC1051712/
https://europepmc.org/articles/PMC1051712/
Autor:
P W, Lunt, P E, Jardine, M, Koch, J, Maynard, M, Osborn, M, Williams, P S, Harper, M, Upadhyaya
Publikováno v:
Musclenerve. Supplement. 2
The wide range of severity in facioscapulohumeral muscular dystrophy (FSHD) complicates genetic advice, although onset age is youngest and severity is greatest in isolated cases. From 14 of 16 large FSHD families which are 4q35 linked, and from 25 of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5a3a3e753a7c3a44c61d05de53c7e78b
https://pubmed.ncbi.nlm.nih.gov/7739619
https://pubmed.ncbi.nlm.nih.gov/7739619
Autor:
Matthew Ellis, B J Leech, C Hill, K L Greenhalgh, I A Aligianis, G Bromilow, H Cox, Y Stait, P W Lunt
Publikováno v:
Archives of Disease in Childhood. 88:523-524
To draw up recommendations for the investigation and management of children with a microdeletion of chromosome 22q11.A retrospective review of case notes from patients with a chromosome 22q11 microdeletion identified by cytogenetics laboratories of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::617d9a31c8750afd0e4e649e6e3d0e44
https://doi.org/10.1136/adc.88.6.523
https://doi.org/10.1136/adc.88.6.523
Autor:
P W, Lunt
Publikováno v:
Neuromuscular disorders : NMD. 4(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4e743e5716f2deee42438fa24769b810
https://pubmed.ncbi.nlm.nih.gov/8173356
https://pubmed.ncbi.nlm.nih.gov/8173356
Publikováno v:
Clinical dysmorphology. 2(3)
Kabuki make-up syndrome (KMS) is a mental retardation/congenital malformation syndrome of unknown aetiology. We report a child with the unbalanced karyotype 46,XY,-6,+der(6)t(6;12) (q25.3;q24.31)mat. who has several features of KMS and suggest a poss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::765a110c3e0faa9615e517a95cbfe979
https://pubmed.ncbi.nlm.nih.gov/8287190
https://pubmed.ncbi.nlm.nih.gov/8287190
Publikováno v:
Clinical dysmorphology. 2(2)
An infant with the oculo-auriculo-vertebral (OAV) spectrum is described with the previously unreported association of rectal agenesis with recto-urethral fistula. The patient died at the age of 14 weeks from respiratory obstruction. Autopsy revealed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9aad4fd243e6a5a8f356aec5e4339e8d
https://pubmed.ncbi.nlm.nih.gov/8281277
https://pubmed.ncbi.nlm.nih.gov/8281277