Zobrazeno 1 - 10 of 205 pro vyhledávání: '"M, ROBINOW"'
1
Supraorbital Keyhole Craniotomy via Eyebrow Incision: A Systematic Review and Meta-Analysis
Autor: Catherine C. Peterson, Ben Waldau, Zoe M. Robinow, Kiarash Shahlaie
Publikováno v: World Neurosurgery. 158:e509-e542
Supraorbital eyebrow keyhole craniotomy is a minimally invasive alternative to a frontotemporal craniotomy and is often used for tumor resection and aneurysm clipping. The purpose of this study is to provide a contemporary review on the outcomes rela
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74f4868c8abf085a080918430120287e
https://doi.org/10.1016/j.wneu.2021.11.015
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2
Cosmetic Outcomes of Supraorbital Keyhole Craniotomy Via Eyebrow Incision: A Systematic Review and Meta-Analysis
Autor: Zoe M. Robinow, Catherine Peterson, Robert Riestenberg, Ben Waldau, Nina Yu, Kiarash Shahlaie
Publikováno v: Journal of Neurological Surgery Part B: Skull Base.
Background Supraorbital eyebrow craniotomy is a minimally invasive alternative to a frontotemporal craniotomy and is often used for tumor and vascular pathologies. The purpose of this study was to investigate how patient cosmetic outcomes are affecte
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d2c6b9f81c65076b97f2a8e666699ffa
https://doi.org/10.1055/s-0042-1755575
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3
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen
Autor: P H, Byers, M, Duvic, M, Atkinson, M, Robinow, L T, Smith, S M, Krane, M T, Greally, M, Ludman, R, Matalon, S, Pauker, D, Quanbeck, U, Schwarze
Publikováno v: American journal of medical genetics. 72(1)
Ehlers-Danlos syndrome (EDS) type VII results from defects in the conversion of type I procollagen to collagen as a consequence of mutations in the substrate that alter the protease cleavage site (EDS type VIIA and VIIB) or in the protease itself (ED
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0f7d4a4e8dcce2bf595cda8bc7d19f7c
https://pubmed.ncbi.nlm.nih.gov/9295084
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4
Robin sequence and oligodactyly in mother and son
Autor: M. Robinow, G. F. Johnson, J. Apesos, James F. Reynolds
Publikováno v: American Journal of Medical Genetics. 25:293-297
A combination of the Robin sequence with pre- and postaxial oligodactyly was observed in a mother and her son. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d003f1e1740c58b86857b9ad09d230fc
https://doi.org/10.1002/ajmg.1320250214
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5
The genetic status of mothers of isolated cases of Duchenne muscular dystrophy
Autor: M Robinow, R J Lane, A D Roses
Publikováno v: Journal of Medical Genetics. 20:1-11
Classical genetic theory, based on assumed equal mutation rates in males and females, predicts that one-third of all cases of Duchenne muscular dystrophy (DMD) in a generation are born as new mutants to non-carrier mothers. Furthermore, less than hal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de49b7628dfa4ccf16289e5901a701a3
https://doi.org/10.1136/jmg.20.1.1
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7
THE WEISSENBACHER-ZWEYMULLER SYNDROME OF MICROGNATHIA AND RHIZOMELIC CHONDRODYSPLASIA AT BIRTH WITH SUBSEQUENT NORMAL GROWTH
Autor: David H. Baker, M. Robinow, Thomas L. Slovis, Walter E. Berdon, G. F. Johnson, Jack O. Haller
Publikováno v: American Journal of Roentgenology. 125:936-943
Two patients are reported with the clinical and roentgenographic findings of the Weissenbacher-Zweymuller syndrome. The features are neonatal micrognathia (Pierre Robin syndrome), rhizomelic chondrodysplasia with dumbbell shaped femur and humeri. The
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4ae6a37a6dc612aea1e1db02ac344d0
https://doi.org/10.2214/ajr.125.4.936
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