Zobrazeno 1 - 10
of 12
pro vyhledávání: '"A. E. Knight Johnson"'
Autor:
Jayne A L Houghton, Elisa De Franco, Raúl Calzada‐León, Siri Atma W. Greeley, Daniela del Gaudio, Annette Rønholt Larsen, Klaus Brusgaard, Elisa Nishimura-Meguro, Christine Bellanné-Chantelot, Bradley Harman, Sarah E. Flanagan, Amy E. Knight Johnson, Jean-Baptiste Arnoux, Cécile Saint-Martin, Pamela Bowman, Thomas W Laver, May Sanyoura, Sian Ellard, Lydia Aguilar-Bryan, Henrik Thybo Christesen
Publikováno v:
Human Mutation
De Franco, E, Saint-Martin, C, Brusgaard, K, Knight Johnson, A E, Aguilar-Bryan, L, Bowman, P, Arnoux, J B, Larsen, A R, May, S, Greeley, S A W, Calzada-León, R, Harman, B, Houghton, J A L, Nishimura-Meguro, E, Laver, T W, Ellard, S, del Gaudio, D, Christesen, H T, Bellanné-Chantelot, C & Flanagan, S E 2020, ' Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes ', Human Mutation, vol. 41, no. 5, pp. 884-905 . https://doi.org/10.1002/humu.23995
De Franco, E, Saint-Martin, C, Brusgaard, K, Knight Johnson, A E, Aguilar-Bryan, L, Bowman, P, Arnoux, J B, Larsen, A R, May, S, Greeley, S A W, Calzada-León, R, Harman, B, Houghton, J A L, Nishimura-Meguro, E, Laver, T W, Ellard, S, del Gaudio, D, Christesen, H T, Bellanné-Chantelot, C & Flanagan, S E 2020, ' Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes ', Human Mutation, vol. 41, no. 5, pp. 884-905 . https://doi.org/10.1002/humu.23995
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP‐sensitive potassium channel, a key component of the glucose‐stimulated insulin
Autor:
Olaf Bodamer, Amy E. Knight Johnson, Siri Atma W. Greeley, Alejandro Diaz, Aishwarya Devarajan, Declan Cody, Daniela del Gaudio, Pratik Shah, Kai Lee Yap, Diva D De Leó-Crutchlow, Viswateja Nelakuditi, Sian Ellard, Soma Das, Lisa Truong, David Fischer, Paul S. Thornton, Lindsay C. Burrage, Priscilla Kandikatla, George S. Jeha, Andrew C. Edmondson, Jacea Deml, Sara Halbach, Valeria C Benavides, Darrel Waggoner, Andrea M. Lewis
Publikováno v:
Genetics in Medicine. 21:233-242
The author Diva D. De Leon was incorrectly listed as instead of Diva D. De Leo-Critchlow in the original version of this paper.
Autor:
Siri Atma W. Greeley, Darrel Waggoner, Viswateja Nelakuditi, Kai Lee Yap, David Fischer, Sian Ellard, Alejandro Diaz, Pratik Shah, Jacea Deml, Priscilla Kandikatla, Olaf Bodamer, Amy E. Knight Johnson, Soma Das, George S. Jeha, Andrew C. Edmondson, Andrea M. Lewis, Daniela del Gaudio, Diva D. De León, Paul S. Thornton, Sara Halbach, Lisa Truong, Valeria C Benavides, Aishwarya Devarajan, Lindsay C. Burrage, Declan Cody
Publikováno v:
Genet Med
PURPOSE: Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI. METHODS: We documented the clinical
Autor:
Avni Santani, Stefan Rentas, Eija H. Seppälä, Steven M. Harrison, Lisa M. Vincent, Andrew S. McFaddin, Christin D. Collins, Juha Koskenvuo, Brian H. Shirts, Hane Lee, Rong Mao, Scott Topper, Soma Das, Olga Jarinova, Wenjie Chen, Heidi L. Rehm, Krista Moyer, Rebecca Mar-Heyming, John Garcia, Kathy M. B. Vinette, Kathryn B. Garber, Joshua L. Deignan, Amy E. Knight Johnson, Timothy Tidwell, Narasimhan Nagan, Jill S. Dolinksy
Publikováno v:
Human Mutation. 39:1641-1649
ClinVar provides open access to variant classifications shared from many clinical laboratories. While most classifications are consistent across laboratories, classification differences exist. To facilitate resolution of classification differences on
Autor:
Tina Pesaran, Heidi L. Rehm, Elizabeth C. Chao, Danielle R. Azzariti, Soma Das, Steven M. Harrison, Jill S. Dolinsky, Lisa M. Vincent, Sherri J. Bale, Amy E. Knight Johnson
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Data sharing through ClinVar offers a unique opportunity to identify interpretation differences between laboratories. As part of a ClinGen initiative, four clinical laboratories (Ambry, GeneDx, Partners Healthcare Laboratory for Molecular Medicine, a
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
Autor:
Soma Das, N. S. Young, Viswateja Nelakuditi, Gorka Alkorta-Aranburu, Jane E. Churpek, Lucia Guidugli, Lucy A. Godley, Daniela del Gaudio, Kelly Arndt, Danielle M. Townsley, Amy E. Knight Johnson, Zejuan Li, Carrie Fitzpatrick
Publikováno v:
Leukemia
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes
Autor:
Amy E. Knight Johnson, Lisa R. Letourneau, Rochelle N. Naylor, Daniela del Gaudio, Siri Atma W. Greeley, Louis H. Philipson, May Sanyoura
Publikováno v:
Diabetes Res Clin Pract
We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade. Using ACMG guidelines, 26% were pathogenic, 56% likely pathogenic and 18% were of uncertain
Publikováno v:
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ISBN: 9783319564166
Studies of monogenic disorders of β-cell function have led to a greater understanding of the β-cell physiology and have improved the diagnosis and treatment of patients with these rare conditions. These disorders include single-gene defects associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f5fa496c5dd460857c89a29e329cd06
https://doi.org/10.1007/978-3-319-56418-0_11
https://doi.org/10.1007/978-3-319-56418-0_11
Autor:
J. C. Leblanc, D. Menzies, Soma Das, N. Palmer, David Chitayat, Karen Chong, Sébastien Lévesque, H. Sroka, B. S. Swope, Lauren C. Briere, S. Gopalani, H. Lyon, A. E. Knight Johnson, Joseph R. Siebert, Melissa A Dempsey, Julie Moldenhauer, Eden Haverfield
Publikováno v:
Prenatal Diagnosis. 34:163-167
Objectives Cornelia de Lange syndrome (CdLS) is characterized by distinct facial features, growth retardation, upper limb reduction defects, hirsutism, and intellectual disability. NIPBL mutations have been identified in approximately 60% of patients