Zobrazeno 1 - 10
of 16
pro vyhledávání: '"R. C. Trembath"'
Autor:
D. M. Walsh, S. H. Shah, M. A. Simpson, N. V. Morgan, S. Khaliq, R. C. Trembath, S. Q. Mehdi, E. R. Maher
Publikováno v:
Scientifica, Vol 2012 (2012)
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data
Externí odkaz:
https://doaj.org/article/7861d82f08e9480484f8360783d98a35
Autor:
R E, Harrison, J A, Flanagan, M, Sankelo, S A, Abdalla, J, Rowell, R D, Machado, C G, Elliott, I M, Robbins, H, Olschewski, V, McLaughlin, E, Gruenig, F, Kermeen, M, Halme, A, Räisänen-Sokolowski, T, Laitinen, N W, Morrell, R C, Trembath
Publikováno v:
Journal of Medical Genetics. 40:865-871
Background: Mutations of the transforming growth factor β (TGFβ) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT). Heterozygous mutations of the type II receptor BMPR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e61543a836714a0d089ad00ecd1456f7
https://doi.org/10.1136/jmg.40.12.865
https://doi.org/10.1136/jmg.40.12.865
Autor:
P, Makrythanasis, B W, van Bon, M, Steehouwer, B, Rodríguez-Santiago, M, Simpson, P, Dias, B M, Anderlid, P, Arts, M, Bhat, B, Augello, E, Biamino, E M H F, Bongers, M, Del Campo, I, Cordeiro, A M, Cueto-González, I, Cuscó, C, Deshpande, E, Frysira, L, Izatt, R, Flores, E, Galán, B, Gener, C, Gilissen, S M, Granneman, J, Hoyer, H G, Yntema, C M, Kets, D A, Koolen, C l, Marcelis, A, Medeira, L, Micale, S, Mohammed, S A, de Munnik, A, Nordgren, S, Psoni, W, Reardon, N, Revencu, T, Roscioli, M, Ruiterkamp-Versteeg, H G, Santos, J, Schoumans, J H M, Schuurs-Hoeijmakers, M C, Silengo, L, Toledo, T, Vendrell, I, van der Burgt, B, van Lier, C, Zweier, A, Reymond, R C, Trembath, L, Perez-Jurado, J, Dupont, B B A, de Vries, H G, Brunner, J A, Veltman, G, Merla, S E, Antonarakis, A, Hoischen
Publikováno v:
Clinical Genetics, Vol. 84, No 6 (2013) pp. 539-545
Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e33eea67463edf00917a5757ee093e1b
http://hdl.handle.net/2318/140450
http://hdl.handle.net/2318/140450
Autor:
J. M. van den Ouweland, H. H. Lemkes, R. C. Trembath, R. Ross, G. Velho, D. Cohen, P. Froguel, J. A. Maassen
Publikováno v:
Diabetes. 43:746-751
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16d6ad0661d926f2b627d41489193ff0
https://doi.org/10.2337/diabetes.43.6.746
https://doi.org/10.2337/diabetes.43.6.746
Autor:
R. C. Trembath, J. I. Harper
Publikováno v:
Rook's Textbook of Dermatology, Seventh Edition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::573a8e11260650c3a7010a51ccfa5933
https://doi.org/10.1002/9780470750520.ch12
https://doi.org/10.1002/9780470750520.ch12
Autor:
F, Capon, J, Bharkhada, N E, Cochrane, N J, Mortimer, J F, Setterfield, S, Reynaert, M M, Black, R W, Vaughan, R C, Trembath, K E, Harman
Publikováno v:
The British journal of dermatology. 154(1)
Pemphigus vulgaris (PV, OMIM 169610) is a severe blistering disorder of the skin and mucous membranes, caused by the production of autoantibodies directed against the epithelial adhesive protein desmoglein 3. Although an association between PV and HL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8f6e2aac5495356ce06735c701239cd2
https://pubmed.ncbi.nlm.nih.gov/16403096
https://pubmed.ncbi.nlm.nih.gov/16403096
Autor:
C, Young, M H, Allen, A, Cuthbert, M, Ameen, C, Veal, J, Leman, A D, Burden, B, Kirby, C E M, Griffiths, R C, Trembath, C G, Mathew, J N W N, Barker
Publikováno v:
Experimental dermatology. 12(4)
A C-insertion polymorphism in the NOD2 gene (3020insC) on chromosome 16 is a rare mutation associated with Crohn's disease. Crohn's disease and psoriasis are more commonly observed together than expected by chance. Furthermore a susceptibility locus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a4734189cd7bafcecaf874ced969680d
https://pubmed.ncbi.nlm.nih.gov/12930309
https://pubmed.ncbi.nlm.nih.gov/12930309
Autor:
L M, Luxon, M, Cohen, R A, Coffey, P D, Phelps, K E, Britton, H, Jan, R C, Trembath, W, Reardon
Publikováno v:
International journal of audiology. 42(2)
Pendred syndrome is an autosomal recessive inherited disorder characterized by profound hearing impairment and inappropriate iodine release by the thyroid on perchlorate challenge. Thirty-three cases comprising members of 13 families and eight isolat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0b3521f2107b7a24b499ff3cf3d9278c
https://pubmed.ncbi.nlm.nih.gov/12641391
https://pubmed.ncbi.nlm.nih.gov/12641391
Autor:
M A, Aldred, R C, Trembath
Publikováno v:
Human mutation. 16(3)
GNAS1 on chromosome 20 is a complex locus, encoding multiple proteins, of which G(s)alpha, the alpha-subunit of the heterotrimeric stimulatory G protein G(s), is of particular interest clinically. Amino acid substitutions at two specific codons lead
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3a54cd95201dae7c81e380623abcb67
https://pubmed.ncbi.nlm.nih.gov/10980525
https://pubmed.ncbi.nlm.nih.gov/10980525
Autor:
R D, Machado, M W, Pauciulo, N, Fretwell, C, Veal, J R, Thomson, C, Vilariño Güell, M, Aldred, C A, Brannon, R C, Trembath, W C, Nichols
Publikováno v:
Genomics. 68(2)
Primary pulmonary hypertension (PPH), an often fatal disorder, is characterized by sustained elevation of pulmonary artery pressure of unknown cause. In its familial form (FPPH), the disorder segregates as an autosomal dominant and displays markedly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::09d7bd035b5fb5dd6761158538fa3611
https://pubmed.ncbi.nlm.nih.gov/10964520
https://pubmed.ncbi.nlm.nih.gov/10964520