Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Vinod K Misra"'
Publikováno v:
NeoReviews. 22:e559-e563
A full-term male newborn presents with respiratory distress soon after delivery. ### Prenatal and Birth Histories ### Presentation (Newborn day) Soon after delivery, the neonate developed shallow breathing and increased work of breathing, for which h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72317a054aa6e672f7918481c03dd953
https://doi.org/10.1542/neo.22-8-e559
https://doi.org/10.1542/neo.22-8-e559
Publikováno v:
Journal of Pediatric and Adolescent Gynecology. 33:577-580
Background Swyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated that some cases may result from cryptic 45,X/46,XY mosaicism leading to abnorma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b97e79b517e64b04a43b43ee4834e47
https://doi.org/10.1016/j.jpag.2020.06.008
https://doi.org/10.1016/j.jpag.2020.06.008
Autor:
Christopher M. Grochowski, Adam C. Gunning, Emma L. Baple, Romina Durigon, Tamar Harel, Carolyn Tysoe, James R. Lupski, Wan Hee Yoon, Ian Holt, Catherine Armstrong, Nayana Lahiri, Andrew Parrish, Vinod K. Misra, Ingrid Scurr, Robert W. Taylor, Caroline F. Wright, Uxoa Fernandez Pelayo, Karina Durlacher-Betzer, Klaudia Strucinska, Antonella Spinazzola, Julia Baptista, Tessa Homfray, Sian Ellard, Richard Caswell, Mikel Muñoz Oreja, John Dean, Mitchell H. Cunningham, Karen Stals, Aleck W.E. Jones
Publikováno v:
American Journal of Human Genetics
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination. We report five
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc7e08bd2ff29f72586b79e1f8468ca5
http://europepmc.org/articles/PMC7010973
http://europepmc.org/articles/PMC7010973
Autor:
Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique Lefebvre
Publikováno v:
Journal of Medical Genetics, 59(11), 1058-1068. BMJ PUBLISHING GROUP
J Med Genet
J Med Genet
BackgroundA neurodevelopmental syndrome was recently reported in four patients withSOX4heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fcc7109453ac5c5dd3b5ae4e14c6a32
http://hdl.handle.net/1887/3563135
http://hdl.handle.net/1887/3563135
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9de08ea94e26cd350b69b4c4356e5bd3
https://pubmed.ncbi.nlm.nih.gov/34321324
https://pubmed.ncbi.nlm.nih.gov/34321324
Autor:
Noelle Andrea V. Fabie, Vinod K. Misra
Publikováno v:
Pediatrics In Review. 39:523-526
1. Noelle Andrea V. Fabie, MD* 2. Vinod K. Misra, MD, PhD* 1. *Division of Genetic and Metabolic Disorders, Department of Pediatrics, Wayne State University School of Medicine, Children’s Hospital of Michigan, Detroit, MI A 10-year-old boy is seen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1d708a87d8dfdae8e31ae26a2b26948
https://doi.org/10.1542/pir.2017-0068
https://doi.org/10.1542/pir.2017-0068
Publikováno v:
Practical Neurology. 18:242-245
X-linked adrenoleukodystrophy (XALD) typically presents as a childhood cerebral demyelinating form, as an adult-onset adrenomyeloneuropathy or as adrenocortical insufficiency. Cerebral demyelination presenting in adolescence is unusual. We present an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e26185a1768db1fa5f451e68a1ce0882
https://doi.org/10.1136/practneurol-2017-001718
https://doi.org/10.1136/practneurol-2017-001718
Autor:
Michael T. Zimmermann, Raul Urrutia, Gwen Lomberk, Matthew Auton, Gavin R. Oliver, Patrick R. Blackburn, Margot A. Cousin, Amy E. Knight Johnson, Alexander Tischer, Jennifer L. Kemppainen, Nicole J. Boczek, Eric W. Klee, Vinod K. Misra, Sujatha Sastry, Ralitza H. Gavrilova
Publikováno v:
The Journal of Biological Chemistry
Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1). The clinical phenotype o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::894d62de038fb903cd69dc548efdff95
https://doi.org/10.1074/jbc.m116.770545
https://doi.org/10.1074/jbc.m116.770545
Publikováno v:
Journal of the Endocrine Society
Context: Genetic defects affecting the expression and function of factors involved in pituitary development have been found to be associated with congenital hypopituitarism (CH). However, for most cases of CH, the etiology remains unknown. Case Descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9146c1f29490ba4841539715eb7fc223
https://doi.org/10.1210/js.2016-1072
https://doi.org/10.1210/js.2016-1072