Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Haluk Kavus"'
Autor:
Wendy Chung, Alban Ziegler, Carrie Koval-Burt, Denise Kay, Sharon Suchy, Amber Bergtrup, Katherine Langley, Laura Amendola, Brenna Boyd, Jennifer Bradley, Tracy Brandt, Lilian Cohen, Alison Coffey, Joseph Devaney, Beata Dygulska, Bethany Friedman, Ramsey Fuleihan, Awura Gyimah, Rebecca Hernan, Sean Hofherr, Kathleen Hruska, Zhanzhi Hu, Mederic Jeanne, Guanjun Jin, Aaron Johnson, Haluk Kavus, Rudolph Leibel, Kirsty McWalter, Kristin Monaghan, Nicole Pimentel Soler, Yeyson Quevedo, Samantha Ratner, Kyle Retterer, Natasha Shapiro, Robert Sicko, Samuel Storm, Rebecca Torene, Olatundun Williams, Julia Wynn, Ryan Taft, Paul Kruszka, Michele Caggana
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101369- (2024)
Externí odkaz:
https://doaj.org/article/77189ae45b2c491f99280943989bfb4f
Autor:
Scott Robinson, Brynn Levy, Volkan Okur, Laura Hamm, Wendy K. Chung, Caroline Mebane, Haluk Kavus
Publikováno v:
Genetics in Medicine. 23:2342-2351
Purpose To provide a detailed clinical and cytogenomic summary of individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p). Methods We enrolled 97 individuals with invdupdel(8p), del(8p), and dup(8p). Clinical and molecula
Autor:
Wendy K. Chung, Alexa R. Geltzeiler, Ashley Kahen, LeeAnne Green Snyder, Catherine Kentros, Cora Taylor, Elizabeth Brooks, Haluk Kavus
Publikováno v:
Journal of Medical Genetics. 59:536-543
BackgroundSLC6A1 encodes GAT-1, a major gamma-aminobutyric acid (GABA) transporter in the brain. GAT-1 maintains neurotransmitter homeostasis by removing excess GABA from the synaptic cleft. Pathogenic variants in SLC6A1 disrupt the reuptake of GABA
Autor:
Mohammed Almannai, Dana Marafi, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Ruizhi Duan, Daniel Calame, Isabella Herman, Felix Levesque, Hasnaa M. Elbendary, Ibrahim Hegazy, Wendy K. Chung, Haluk Kavus, Kolsoum Saeidi, Reza Maroofian, Aqeela AlHashim, Ali Al‐Otaibi, Asma Al Madhi, Hager M. Abou Al‐Seood, Ali Alasmari, Henry Houlden, Joseph G. Gleeson, Jill V. Hunter, Jennifer E. Posey, James R. Lupski, Ayman W. El‐Hattab
Publikováno v:
Clin Genet
Homozygous pathogenic variants in WDR45B were first identified in six subjects from three unrelated families with global development delay, refractory seizures, spastic quadriplegia, and brain malformations. Since the initial report in 2018, no furth
Autor:
Ingrid M. Wentzensen, Patrick Dunn, Caleb Heid, Esperanza Font-Montgomery, Anna Chassevent, Solveig Heide, Vinod K. Misra, Leandra Folk, Wendy K. Chung, Alexandra Afenjar, Sandra Whalen, Suzanne M. Leal, Thomas Smol, Erin Torti, Kathleen Brown, Isabelle Schrauwen, Anushree Acharya, Magali Barth, Mayada Helal, Mélanie Rama, Thomas Courtin, Irma Järvelä, Maura R.Z. Ruzhnikov, Farouq Thabet, Boris Keren, Haluk Kavus, Kara Withrow, J. Austin Hamm, Elizabeth A. Normand, Mitch Cunningham, Constance Smith-Hicks, Camille Fallot, Fanggeng Zou, Abdul Nasir, Donald R. Love, Alban Ziegler
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩
BackgroundVariants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadly been defin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b57ea74f5fb77388de1042d0f1a0159
https://hal.science/hal-03998194/document
https://hal.science/hal-03998194/document
Autor:
Anushree, Acharya, Haluk, Kavus, Patrick, Dunn, Abdul, Nasir, Leandra, Folk, Kara, Withrow, Ingrid M, Wentzensen, Maura R Z, Ruzhnikov, Camille, Fallot, Thomas, Smol, Mélanie, Rama, Kathleen, Brown, Sandra, Whalen, Alban, Ziegler, Magali, Barth, Anna, Chassevent, Constance, Smith-Hicks, Alexandra, Afenjar, Thomas, Courtin, Solveig, Heide, Esperanza, Font-Montgomery, Caleb, Heid, J Austin, Hamm, Donald R, Love, Farouq, Thabet, Vinod K, Misra, Mitch, Cunningham, Suzanne M, Leal, Irma, Jarvela, Elizabeth A, Normand, Fanggeng, Zou, Mayada, Helal, Boris, Keren, Erin, Torti, Wendy K, Chung, Isabelle, Schrauwen
Publikováno v:
Journal of medical genetics. 59(7)
Variants inMolecular and clinical data were collected from clinical and research cohorts. Massive parallel sequencing was performed and identified individuals with aWe identified 13 novel missense variants inWe provide a comprehensive review and expa
Autor:
Ashley, Kahen, Haluk, Kavus, Alexa, Geltzeiler, Catherine, Kentros, Cora, Taylor, Elizabeth, Brooks, LeeAnne, Green Snyder, Wendy, Chung
Publikováno v:
Journal of medical genetics. 59(6)
Medical history interviews, seizure surveys, Vineland Adaptive Behavior Scales Second Edition and other behavioural surveys were completed by primary care givers of 28 participants in Simons Searchlight. All participants underwent clinical whole exom
Autor:
Volkan, Okur, Laura, Hamm, Haluk, Kavus, Caroline, Mebane, Scott, Robinson, Brynn, Levy, Wendy K, Chung
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(12)
To provide a detailed clinical and cytogenomic summary of individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p).We enrolled 97 individuals with invdupdel(8p), del(8p), and dup(8p). Clinical and molecular data were colle
Autor:
Bertrand Isidor, Irene Valenzuela, Cyril Mignot, Wendy K. Chung, Haluk Kavus, Arnold Munnich, Madison Garrity, Austin Larson, Gary A. Bellus, Sara Reed, Marta Rojas-Vasquez
Publikováno v:
Scientia
Cold Spring Harbor Molecular Case Studies
Cold Spring Harbor Molecular Case Studies
Discapacitat intel·lectual; Retard greu del desenvolupament global; Microcefàlia severa Discapacidad intelectual; Retraso severo en el desarrollo global; Microcefalia severa Intellectual disability; Severe global developmental delay; Severe microce
Autor:
Haluk Topaloglu, Mutluay Arslan, Elif Acar Arslan, Ahmet Cevdet Ceylan, Haktan Bağış Erdem, Haluk Kavus
Publikováno v:
Acta neurologica Belgica. 121(6)
Autosomal recessive cerebellar ataxias (ARCA) are characterized by the abnormal structure of the cerebellum and spinal cord. Spinocerebellar ataxia type 18 (MIM 616204), one of the ARCA, is caused by the loss-of-function mutations of the GRID2 gene d