Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Andrew K, Sobering"'
Autor:
Mary Maj, Christie L. Taylor, Kevin Landau, Helga V. Toriello, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Beverly Nelson, Sarah Gluschitz, Ruth H. Walker, Andrew K. Sobering
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Background SYNJ1 encodes Synaptojanin‐1, a dual‐function poly‐phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics. Biallelic SYNJ1 variants cause a spectrum of clinical manifestati
Externí odkaz:
https://doaj.org/article/1cca6a990bb9497ba7aef86456f677fb
Autor:
Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100168- (2023)
Externí odkaz:
https://doaj.org/article/ddf394ee2a824e889ca80fd9964b128c
Autor:
Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)
Summary: Loss-of-function variants in PHD Finger Protein 8 (PHF8) cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a histone demethylase that is important for epigenetic regulation of gene expression.
Externí odkaz:
https://doaj.org/article/a51bea96ddd1445fa536cbf3b76cb27c
Autor:
Giavanna Verdi, Dong Li, Sarah H. Elsea, Beverly Nelson, Elizabeth J. Bhoj, Hakon Hakonarson, Katherine R. Yearwood, Sharmila Upadhya, Sarah Gluschitz, Janice L. Smith, Andrew K. Sobering
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background Individuals with various sized terminal duplications of chromosome 5p or terminal deletions of chromosome 18q have been described. These aberrations may cause congenital malformations and intellectual disability of varying severit
Externí odkaz:
https://doaj.org/article/50cc2808f9d749c4adc6877f09aa25b5
Autor:
Nester Mitchell, Gaynel A. LaTouche, Beverly Nelson, Karla P. Figueroa, Ruth H. Walker, Andrew K. Sobering
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-4 (2019)
Background: Dystonia is a relatively common feature of spinocerebellar ataxia 3 (SCA3). Childhood onset of SCA3 is rare and typically associated with either relatively large, or homozygous, CAG repeat expansions. Case report: We describe a 10-year-ol
Externí odkaz:
https://doaj.org/article/0989e14e30824c808923340d7e520b78
Publikováno v:
Tremor and Other Hyperkinetic Movements, Pp 1-4 (2019)
Background: Ataxia is diagnosed by typical features on examination suggestive of a cerebellar etiology and can invoke extensive diagnostic testing. Osteoid osteomas (OOs) are benign bone tumors of the lower limbs that occasionally present with focal
Externí odkaz:
https://doaj.org/article/3968731983a143c4ab582730d016e788
Autor:
Alyssa Grygiel, Felicia Ikolo, Raphielle Stephen, Dawnell Bleasdille, Patricia Robbins‐Furman, Beverly Nelson, Andrew K. Sobering, Sarah H. Elsea
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Abstract Background Grenada is a small, resource‐limited Caribbean country with a high incidence of sickle cell disease (SCD). Since little is known about the challenges facing individuals living with SCD in the West Indies, we sought to assess bar
Externí odkaz:
https://doaj.org/article/216e0adf874f49e0a45c1c511ca3ebc9
Publikováno v:
Medical Education Online, Vol 26, Iss 1 (2021)
The use of recorded video in medical education is increasing. Video material may be assigned before scheduled sessions to create a flipped classroom. Here, the instructor may lead a session that is organized for discussion, interpretation, and reflec
Externí odkaz:
https://doaj.org/article/4021a1723f314031a2271424ce994edf
Autor:
Wayne Thompson, Patrick Z. Carey, Tyhiesia Donald, Beverly Nelson, Elizabeth J. Bhoj, Dong Li, Hakon Hakonarson, Maricela Ramirez, Sarah H. Elsea, Janice L. Smith, John C. Carey, Andrew K. Sobering
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background Cornelia de Lange syndrome (CdLS) comprises a recognizable pattern of multiple congenital anomalies caused by variants of the DNA cohesion complex. Affected individuals may display a wide range of phenotypic severity, even within
Externí odkaz:
https://doaj.org/article/c4928dc070c7459287fe2947dee43c40
Publikováno v:
Tremor and Other Hyperkinetic Movements, Pp 1-5 (2018)
Background: Access to medical care in many regions is limited by socioeconomic status, at both the individual and the community level. This report describes the diagnostic process of a family residing on an underserved Caribbean island where routine
Externí odkaz:
https://doaj.org/article/3601d73413174ddf8890d30ff905e3b5