Zobrazeno 1 - 10
of 14
pro vyhledávání: '"B B, Roa"'
Publikováno v:
Child's Nervous System. 22:320-324
We describe a female patient with Arnold Chiari type I malformation, atypical Rett syndrome characterized by postnatal onset microcephaly, stereotypic hand movements, ataxia, severe developmental delay, intractable tonic–clonic seizures, and a MECP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab85a63cb5abde05dea442dd715330ff
https://doi.org/10.1007/s00381-005-1155-z
https://doi.org/10.1007/s00381-005-1155-z
Autor:
B B, Roa, F, Greenberg, P, Gunaratne, C M, Sauer, M S, Lubinsky, C, Kozma, J M, Meck, R E, Magenis, L G, Shaffer, J R, Lupski
Publikováno v:
Human genetics. 97(5)
Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::51ccb95687137f36e4b09139b553eb53
https://pubmed.ncbi.nlm.nih.gov/8655146
https://pubmed.ncbi.nlm.nih.gov/8655146
Publikováno v:
Human mutation. 7(1)
The myelin protein zero gene (MPZ) maps to chromosome 1q22-q23 and encodes the most abundant peripheral nerve myelin protein. The Po protein functions as a homophilic adhesion molecule in myelin compaction. Mutations in the MPZ gene are associated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e1d2a3d6093ec33321186c7e15bd745a
https://pubmed.ncbi.nlm.nih.gov/8664899
https://pubmed.ncbi.nlm.nih.gov/8664899
Publikováno v:
Human mutation. 8(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::95f1a527ccd57500711bf530c1c673ae
https://pubmed.ncbi.nlm.nih.gov/8956042
https://pubmed.ncbi.nlm.nih.gov/8956042
Autor:
B B, Roa, J R, Lupski
Publikováno v:
Advances in human genetics. 22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::db702c85131cd20b43d30efd2f94509d
https://pubmed.ncbi.nlm.nih.gov/7762451
https://pubmed.ncbi.nlm.nih.gov/7762451
Publikováno v:
International journal of neurology.
Charcot-Marie-Tooth disease type 1A is a demyelinating, inherited peripheral neuropathy which is associated with a DNA duplication in chromosome 17p11.2-p12 in over 70% of patients with CMT1A. The CMT1A duplication is not detected cytogenetically, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bfe6e2f8c06031744f67f11082a0d157
https://pubmed.ncbi.nlm.nih.gov/11980069
https://pubmed.ncbi.nlm.nih.gov/11980069
We report the DNA sequence and in vivo transcription start of pdxB, which encodes a protein required for de novo biosynthesis of pyridoxine (vitamin B6). The DNA sequence confirms results from previous minicell experiments showing that pdxB encodes a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8c401e5a1ad28767f569c1000aff83
https://europepmc.org/articles/PMC210475/
https://europepmc.org/articles/PMC210475/
Autor:
Landon M; Myriad Genetic Laboratories, Inc., Salt Lake City, UT, USA., Ceulemans S, Saraiya DS, Strike B, Arnell C, Burbidge LA, Moyes K, Theisen A, Fernandes PH, Ji JQ, Abbott B, Kaldate RR, Roa B
Publikováno v:
Clinical genetics [Clin Genet] 2015 Apr; Vol. 87 (4), pp. 368-72. Date of Electronic Publication: 2014 May 10.
Autor:
Eggington JM; Myriad Genetic Laboratories, Inc., Salt Lake City, UT, USA., Bowles KR, Moyes K, Manley S, Esterling L, Sizemore S, Rosenthal E, Theisen A, Saam J, Arnell C, Pruss D, Bennett J, Burbidge LA, Roa B, Wenstrup RJ
Publikováno v:
Clinical genetics [Clin Genet] 2014 Sep; Vol. 86 (3), pp. 229-37. Date of Electronic Publication: 2013 Dec 20.
Autor:
Moretti P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F
Publikováno v:
Neurology [Neurology] 2005 Mar 22; Vol. 64 (6), pp. 1088-90.