Zobrazeno 1 - 10 of 90 pro vyhledávání: '"George H. Thomas"'
1
Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function
Autor: Jonathan Pevsner, Julie Hoover-Fong, Emily C. Lisi, Nathaniel D. Miller, Elizabeth Wohler, Melonie A. Nance, George H. Thomas
Publikováno v: American Journal of Medical Genetics Part A. :669-680
We report on the analyses of four unrelated patients with de novo, overlapping, hemizygous deletions of the long arm of chromosome 10. These include two small terminal deletions (10q26.2 to 10qter), a larger terminal deletion (10q26.12 to 10qter), an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fc872d9a2041c8752c50349aa8fdec7
https://doi.org/10.1002/ajmg.a.32705
Zobrazit plný text záznamu
2
Growth of epitaxial films of sodium potassium tantalate and niobate on single-crystal lanthanum aluminate [100] substrates
Autor: John Z. Larese, George H. Thomas, Eliot D. Specht, Zi-Ling Xue, David B. Beach
Publikováno v: Journal of Materials Research. 23:3281-3287
Epitaxial films of sodium potassium tantalate (Na0.5K0.5TaO3, NKT) and sodium potassium niobate (Na0.5K0.5NbO3, NKN) were grown on single-crystal lanthanum aluminate (LAO) (100) (indexed as a pseudo-cubic unit cell) substrates via an all-alkoxide sol
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::437c98c10c9b988b5b51f7274a0ce4d0
https://doi.org/10.1557/jmr.2008.0393
Zobrazit plný text záznamu
3
Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter)
Autor: L. Wissow, F. P. Kuhajda, George H. Thomas, David Valle, Jay R. Shapiro, Judith Stamberg
Publikováno v: Clinical Genetics. 19:122-125
We report a stillborn infant with partial trisomy 6q who had several major congenital malformations not previously associated with the chromosomal aberration. These included occipital encephalocele, ambiguous genitalia with imperforate anus, omphaloc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972a348dd7c3fe64ac8ac1a8a76c0f8d
https://doi.org/10.1111/j.1399-0004.1981.tb00681.x
Zobrazit plný text záznamu
4
Complex chromosome rearrangements:Report of a new case and literature review
Autor: G. S. Pai, George H. Thomas, Barbara R. Migeon, William Mahoney
Publikováno v: Clinical Genetics. 18:436-444
A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f88e5990fe87ac3b3344072e7391abf
https://doi.org/10.1111/j.1399-0004.1980.tb01790.x
Zobrazit plný text záznamu
5
Objective Assessment of Gait in Normal-Pressure Hydrocephalus
Autor: Michael A. Williams, Hejab Imteyaz, Barbara J. De Lateur, George H. Thomas, Siddharth Kharkar, J Gregory Rose, Daniele Rigamonti, Wendy S. Shore
Publikováno v: American Journal of Physical Medicine & Rehabilitation. 87:39-45
Williams MA, Thomas G, de Lateur B, Imteyaz H, Rose JG, Shore WS, Kharkar S, Rigamonti D: Objective assessment of gait in normal-pressure hydrocephalus. Am J Phys Med Rehabil 2008;87:39‐45. Objectives: Gait abnormalities are an early clinical sympt
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a652f1b0b4d8304eb210b69bdfe5dd06
https://doi.org/10.1097/phm.0b013e31815b6461
Zobrazit plný text záznamu
6
Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio
Autor: Ingo Ruczinski, George H. Thomas, Alana Lysholm-Bernacchi, George T. Capone, Elisha D.O. Roberson, Dietrich A. Stephan, Jonathan Pevsner, Nathaniel D. Miller, Jason C. Ting
Publikováno v: Human Mutation. 28:1225-1235
A variety of alterations occur in chromosomal DNA, many of which can be detected using high density single nucleotide polymorphism (SNP) microarrays. These include deletions and duplications (assessed by observing changes in copy number) and regions
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::beba326252b06b4c38e247217543801e
https://doi.org/10.1002/humu.20583
Zobrazit plný text záznamu
7
Cerebrospinal fluid shunt placement for pseudotumor cerebri—associated intractable headache: predictors of treatment response and an analysis of long-term outcomes
Autor: George H. Thomas, Graeme F. Woodworth, Matthew J. McGirt, Daniele Rigamonti, Neil R. Miller, Michael A. Williams
Publikováno v: Journal of Neurosurgery. 101:627-632
Object. Cerebrospinal fluid (CSF) shunts effectively reverse symptoms of pseudotumor cerebri postoperatively, but long-term outcome has not been investigated. Lumboperitoneal (LP) shunts are the mainstay of CSF shunts for pseudotumor cerebri; however
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f83478359a4298d4a9333d9052b205
https://doi.org/10.3171/jns.2004.101.4.0627
Zobrazit plný text záznamu
8
Facial dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1-21.1
Autor: Julie Hoover-Fong, Ada Hamosh, A Patel, C B Cargile, George H. Thomas, Juanliang Cai, Ethylin Wang Jabs, Constance A. Griffin
Publikováno v: American Journal of Medical Genetics. :47-56
We describe a female neonate with a unique constellation of features including anophthalmia and cryptophthalmos, temporal remnant "eye tags," bilateral cleft lip, unilateral cleft palate, a proboscis with absent nasal septum, choanal atresia, microgn
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f81df8dd1302fb2b5f55ebb4b30e1fc
https://doi.org/10.1002/ajmg.a.10046
Zobrazit plný text záznamu
9
Development of the reflux finding score for infants and its observer agreement
Autor: George H. Thomas, Astrid M. König, Quinten Kammeijer, Lenka Vermeeren, Bas Pullens, Erik van Spronsen, Michiel P. van Wijk, Rachel J. van der Pol, Marc A. Benninga, Hans L.J. Hoeve, Maartje Singendonk
Publikováno v: Journal of Pediatrics, 165(3), 479-84. Mosby Inc.
Journal of pediatrics, 165(3), 479-484. Mosby Inc.
Journal of Pediatrics, 165(3), 479-484. Mosby Inc.
van der Pol, R J, Singendonk, M M J, König, A M, Hoeve, H, Kammeijer, Q, Pullens, B, van Spronsen, E, Thomas, G, Vermeeren, L, Benninga, M A & van Wijk, M P 2014, ' Development of the reflux finding score for infants and its observer agreement ', Journal of Pediatrics, vol. 165, no. 3, pp. 479-84 . https://doi.org/10.1016/j.jpeds.2014.05.022
OBJECTIVE: It is hypothesized that laryngeal edema is caused by laryngopharyngeal reflux (LPR) (ie, gastroesophageal reflux extending into the larynx and pharynx). The validated reflux finding score (RFS) assesses LPR disease in adults. We, therefore
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4d5e0de0ce14dd9aaa5b4e0dd0c0d52
https://research.vumc.nl/en/publications/387ee598-53ce-4a39-b8b0-a70cc7c669ba
Zobrazit plný text záznamu
10
Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)
Autor: Barbara K. Goodman, Colyn B. Cargile, Xiao Ning Chen, Mark V. Clough, Julie R. Korenberg, Michael T. Geraghty, Julie Rutberg, George H. Thomas, Iain McIntosh, Reza Yaghmai
Publikováno v: American Journal of Medical Genetics. 92:328-335
The relationship of delayed membranous cranial ossification to cranium bifidum and parietal foramina syndromes is unclear. We report on a family with delayed cranial membranous ossification (OMIM 155980) that segregates with an apparently balanced re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5fdd57d6b7d52e69240888114d7faea
https://doi.org/10.1002/1096-8628(20000619)92:5<328::aid-ajmg7>3.0.co
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje