Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Ceulemans, Sophia"" wg kryterium: Autor


Wyświetlanie 1-14 z 14
Tytuł :
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Autorzy :
O’Donnell-Luria, Anne
Pais, Lynn
Faundes, Víctor
Wood, Jordan
Sveden, Abigail
Luria, Victor
Abou Jamra, Rami
Accogli, Andrea
Amburgey, Kimberly
Anderlid, Britt Marie
Azzarello-Burri, Silvia
Basinger, Alice
Bianchini, Claudia
Bird, Lynne
Buchert, Rebecca
Carré, Wilfrid
Ceulemans, Sophia
Charles, Perrine
Culliton, Lisa
Currò, Aurora
Demurger, Florence
Dowling, James
Duban-Bedu, Bénédicte
Dubourg, Christèle
Eiset, Saga Elise
Escobar, Luis
Ferrarini, Alessandra
Haack, Tobias
Hashim, Mona
Heide, Solveig
Helbig, Katherine
Helbig, Ingo
Heredia, Raul
Héron, Delphine
Isidor, Bertrand
Jonasson, Amy
Joset, Pascal
Keren, Boris
Kok, Fernando
Kroes, Hester
Lavillaureix, Alinoë
Lu, Xin
Maas, Saskia
Maegawa, Gustavo H.B.
Marcelis, Carlo L.M.
Mark, Paul
Masruha, Marcelo
McLaughlin, Heather
McWalter, Kirsty
Melchinger, Esther
Mercimek-Andrews, Saadet
Nava, Caroline
Pendziwiat, Manuela
Person, Richard
Ramelli, Gian Paolo
Ramos, Luiza L.P.
Rauch, Anita
Reavey, Caitlin
Renieri, Alessandra
Rieß, Angelika
Sanchez-Valle, Amarilis
Sattar, Shifteh
Saunders, Carol
Schwarz, Niklas
Smol, Thomas
Srour, Myriam
Steindl, Katharina
Syrbe, Steffen
Taylor, Jenny
Telegrafi, Aida
Thiffault, Isabelle
Trauner, Doris
van der Linden, Helio
van Koningsbruggen, Silvana
Villard, Laurent
Vogel, Ida
Weber, Yvonne
Wentzensen, Ingrid
Widjaja, Elysa
Zak, Jaroslav
Baxter, Samantha
Rodan, Lance
McRae, Jeremy
Clayton, Stephen
Fitzgerald, Tomas
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy
King, Daniel
Krishnappa, Netravathi
Mason, Laura
Singh, Tarjinder
Tivey, Adrian
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A. Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clayton-Smith, Jill
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D’Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eason, Jacqueline
Ellard, Sian
Ellis, Ian
Elmslie, Frances
Evans, Karenza
Everest, Sarah
Fendick, Tina
Fisher, Richard
Flinter, Frances
Foulds, Nicola
Fry, Andrew
Fryer, Alan
Gardiner, Carol
Gaunt, Lorraine
Ghali, Neeti
Gibbons, Richard
Gill, Harinder
Goodship, Judith
Goudie, David
Gray, Emma
Green, Andrew
Greene, Philip
Greenhalgh, Lynn
Gribble, Susan
Harrison, Rachel
Harrison, Lucy
Harrison, Victoria
Hawkins, Rose
He, Liu
Hellens, Stephen
Henderson, Alex
Hewitt, Sarah
Hildyard, Lucy
Hobson, Emma
Holden, Simon
Holder, Muriel
Holder, Susan
Hollingsworth, Georgina
Homfray, Tessa
Humphreys, Mervyn
Hurst, Jane
Hutton, Ben
Ingram, Stuart
Irving, Melita
Islam, Lily
Jackson, Andrew
Jarvis, Joanna
Jenkins, Lucy
Johnson, Diana
Jones, Elizabeth
Josifova, Dragana
Joss, Shelagh
Kaemba, Beckie
Kazembe, Sandra
Kelsell, Rosemary
Kerr, Bronwyn
Kingston, Helen
Kini, Usha
Kinning, Esther
Kirby, Gail
Kirk, Claire
Kivuva, Emma
Kraus, Alison
Kumar, Dhavendra
Kumar, V.
Lachlan, Katherine
Lam, Wayne
Lampe, Anne
Langman, Caroline
Lees, Melissa
Lim, Derek
Longman, Cheryl
Lowther, Gordon
Lynch, Sally
Magee, Alex
Maher, Eddy
Male, Alison
Mansour, Sahar
Marks, Karen
Martin, Katherine
Maye, Una
McCann, Emma
McConnell, Vivienne
McEntagart, Meriel
McGowan, Ruth
McKay, Kirsten
McKee, Shane
McMullan, Dominic
McNerlan, Susan
McWilliam, Catherine
Mehta, Sarju
Metcalfe, Kay
Middleton, Anna
Miedzybrodzka, Zosia
Miles, Emma
Mohammed, Shehla
Montgomery, Tara
Moore, David
Morgan, Sian
Morton, Jenny
Mugalaasi, Hood
Murday, Victoria
Murphy, Helen
Naik, Swati
Nemeth, Andrea
Nevitt, Louise
Newbury-Ecob, Ruth
Norman, Andrew
O’Shea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Price, Sue
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Rankin, Julia
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Temple, I. Karen
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellåker, Chris
Parker, Michael
Firth, Helen
Wright, Caroline
Fitzpatrick, David
Barrett, Jeffrey
Hurles, Matthew
Pokaż więcej
Temat :
global developmental delay
epileptic encephalopathy
epilepsy
autism
KMT2E
H3K4 methylation
neurodevelopmental disorder
intellectual disability
[SDV]Life Sciences [q-bio]
[SDV.GEN]Life Sciences [q-bio]/Genetics
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Źródło :
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
Tytuł :
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
Autorzy :
ODonnell-Luria, Anne H
Pais, Lynn S
Faundes, Victor
Wood, Jordan C
Sveden, Abigail
Luria, Victor
Abou Jamra, Rami
Accogli, Andrea
Amburgey, Kimberly
Anderlid, Britt-Marie
Azzarello-Burri, Silvia
Basinger, Alice A
Bianchini, Claudia
Bird, Lynn M
Buchert, Rebecca
Carre, Wilfrid
Ceulemans, Sophia
Charles, Perrine
Cox, Helen
Culliton, Lisa
Currò, Aurora
Demurger, Florence
Dowling, James J
Duban-Bedu, Benedicte
Dubourg, Christele
Escobar, Luis F
Ferrarini, Alessandra
Haack, Tobias B
Hashim, Mona
Heide, Solveig
Helbig, Katherine L
Helbig, Ingo
Heredia, Raul
Heron, Delphine
Isidor, Bertrand
Jonasson, Amy R
Joset, Pascal
Keren, Boris
Kok, Fernando
Kroes, Hester Y
Lavillaureix, Alinoë
Lu, Xin
Maas, Saskia
Maegawa, Gustavo HB
Marcelis, Carlo LM
Eiset, Saga Elise
Mark, Paul R
Masruha, Mercelo R
McLaughlin, Heather M
McWalter, Kirsty
Melchinger, Esther U
Mercimek-Andrews, Saadet
Nava, Caroline
Pendziwiat, Manuela
Person, Richard
Ramelli, Gian Paolo Paolo
Ramos, Luiza LP
Rauch, Anita
Reavey, Caitlin
Renieri, Alessandra
Rieß, Angelika
Sanchez-Valle, Amarilis
Sattar, Shifteh
Saunders, Carol
Schwarz, Niklas
Smol, Thomas
Srour, Myriam
Steindl, Katharina
Syrbe, Steffen
Taylor, Jenny C
Telegrafi, Aida
Thiffault, Isabelle
Trauner, Doris A
van der Linden, Helio
van Koningsbruggen, Silvana
Villard, Laurent
Vogel, Ida
Vogt, Julie
Weber, Yvonne G
Wentzensen, Ingrid M
Widjaja, Elysa
Zak, Jaroslav
Baxter, Samantha
Banka, Siddharth
Rodan, Lance H
Pokaż więcej
Tytuł :
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Autorzy :
Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Stoyanov G; Faculty of Medicine, University of Cologne, Cologne, Germany.
Erger F; Faculty of Medicine, University of Cologne, Cologne, Germany.; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
Stratakis CA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
Settas N; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
London E; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA.
Torti E; GeneDX, Gaithersburg, MD, USA.
Haldeman-Englert C; Mission Fullerton Genetics Center, Asheville, NC, USA.
Sklirou E; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Kessler E; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Ceulemans S; Genetics/Dysmorphology, Rady Children's Hospital, San Diego, CA, USA.
Nelson SF; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Palmer CGS; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Department of Psychiatry & Biobehavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Institute for Society and Genetics, UCLA, Los Angeles, CA, USA.
Signer RH; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA.
Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA.
Willaert R; Baylor Genetics Laboratory, Houston, TX, USA.
Person R; GeneDX, Gaithersburg, MD, USA.
Telegrafi A; GeneDX, Gaithersburg, MD, USA.
Sievers A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Laugsch M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Theiß S; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Cheng Y; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Biomedicine West Wing, International Centre for Life, Times Square, Newcastle upon Tyne, UK.
Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Stocco A; INTEGRIS Pediatric Neurology, Oklahoma City, OK, USA.
Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. .; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. .
Pokaż więcej
Corporate Authors :
Undiagnosed Diseases Network
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr 08. Date of Electronic Publication: 2021 Apr 08.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Autorzy :
O'Donnell-Luria AH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA. Electronic address: .
Pais LS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
Faundes V; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile.
Wood JC; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
Sveden A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
Luria V; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.
Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
Accogli A; Department of Pediatrics, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Quebec, Canada; Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica Scienze Materno-Infantili, Università degli studi di Genova, 16126 Genova, Italy; IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Amburgey K; Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto M5G 1X8, ON, Canada.
Anderlid BM; Department of Molecular Medicine and Surgery, Centre for Molecular Medicine, Karolinska Institutet, Stockholm 17176, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm 17176, Sweden.
Azzarello-Burri S; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland.
Basinger AA; Genetics, Cook Children's Physician Network, Fort Worth, TX 76104, USA.
Bianchini C; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy.
Bird LM; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Division of Genetics, Rady Children's Hospital of San Diego, San Diego, CA 92123, USA.
Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.
Carre W; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.
Ceulemans S; Division of Genetics, Rady Children's Hospital of San Diego, San Diego, CA 92123, USA.
Charles P; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.
Cox H; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK.
Culliton L; Department of Neurology, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA.
Currò A; Medical Genetics, University of Siena, 53100 Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Demurger F; Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, 35033 Rennes, France.
Dowling JJ; Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto M5G 1X8, ON, Canada.
Duban-Bedu B; Centre de Génétique Chromosomique, Groupement des Hôpitaux de l'Institut Catholique de Lille Hôpital Saint Vincent de Paul, 59020 Lille, France; Faculté de médecine de l'Université Catholoique de Lille, 59800 Lille, France.
Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.
Eiset SE; Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus, Denmark.
Escobar LF; St. Vincent's Children's Hospital, Indianapolis, IN 46260, USA.
Ferrarini A; Medical Genetic Unit, Italian Hospital of Lugano, Lugano, Switzerland; Università della Svizzera Italiana, 6900 Lugano, Switzerland.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.
Hashim M; Oxford National Institute for Health Research Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Heide S; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.
Helbig KL; Division of Neurology and Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Helbig I; Division of Neurology and Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104 USA; Department of Neuropediatrics, University Medical Center, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
Heredia R; GeneDx, Gaithersburg, MD 20877, USA.
Héron D; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.
Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Centre Hospitalier Universitaire de Nantes, 44093 Nantes, France.
Jonasson AR; Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, FL 32610, USA.
Joset P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland.
Keren B; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.
Kok F; Mendelics Genomic Analysis, Sao Paulo 04013, Brazil.
Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, 3584 CX Utrecht, Netherlands.
Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, 35033 Rennes, France.
Lu X; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK.
Maas SM; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.
Maegawa GHB; Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, FL 32610, USA.
Marcelis CLM; Department of Clinical Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
Mark PR; Division of Medical Genetics and Genomics, Spectrum Health, Grand Rapids, MI 49544, USA.
Masruha MR; Department of Neurology and Neurosurgery, Universidade de Federal de São Paulo, São Paulo 04023, Brazil.
McLaughlin HM; GeneDx, Gaithersburg, MD 20877, USA.
McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
Melchinger EU; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.
Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.
Nava C; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.
Pendziwiat M; Department of Neuropediatrics, University Medical Center, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
Person R; GeneDx, Gaithersburg, MD 20877, USA.
Ramelli GP; Neuropediatric Unit, Pediatric Department of Southern Switzerland, San Giovanni Hospital, 6500 Bellinzona, Switzerland.
Ramos LLP; Mendelics Genomic Analysis, Sao Paulo 04013, Brazil.
Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland; Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zurich, CH-8006 Zurich, Switzerland.
Reavey C; GeneDx, Gaithersburg, MD 20877, USA.
Renieri A; Medical Genetics, University of Siena, 53100 Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.
Sanchez-Valle A; Department of Pediatrics, Division of Genetics and Metabolism, University of South Florida, Tampa, FL 33606, USA.
Sattar S; Section of Pediatric Neurology, Rady Children's Hospital, San Diego, CA 92123, USA; Department of Neurosciences, University of California San Diego, La Jolla, CA 92093, USA; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.
Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA; School of Medicine, University of Missouri, Kansas City, MO 64108, USA.
Schwarz N; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Smol T; EA7364 Rares du Developpement Embryonnaire et du Metabolisme, Institut de Genetique Medicale, Centre Hospitalier Universitaire de Lille, University of Lille, F-59000 Lille, France.
Srour M; Department of Pediatrics, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Quebec, Canada.
Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland.
Syrbe S; Division of Child Neurology and Inherited Metabolic Diseases, Department of General Paediatrics, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Taylor JC; Oxford National Institute for Health Research Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
Thiffault I; School of Medicine, University of Missouri, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA.
Trauner DA; Section of Pediatric Neurology, Rady Children's Hospital, San Diego, CA 92123, USA; Department of Neurosciences, University of California San Diego, La Jolla, CA 92093, USA; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.
van der Linden H Jr; Pediatric Neurology and Neurophysiology, Instituto de Neurologia de Goiania, Goiania 74210, Brazil.
van Koningsbruggen S; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.
Villard L; Department of Medical Genetics, Assistance Publique - Hôpitaux de Marseille, Hôpital d'Enfants de La Timone, 13005 Marseille, France; Marseille Medical Genetics Center, Aix Marseille Univ, Inserm, U1251, Marseille, France.
Vogel I; Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus, Denmark; Center for Fetal Diagnostics, Aarhus University Hospital, 8200 Aarhus, Denmark.
Vogt J; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK.
Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; Department for Neurosurgery, University of Tübingen, 72076 Tübingen, Germany.
Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.
Widjaja E; Department of Diagnostic Imaging, Hospital for Sick Children, University of Toronto, Toronto, M5G 1X8, ON, Canada.
Zak J; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK; Department of Immunology and Microbiology, The Scripps Research Institute, La Jolla, CA 92037, USA.
Baxter S; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University National Health Service Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.
Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: .
Pokaż więcej
Corporate Authors :
Deciphering Developmental Disorders (DDD) Study; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Jun 06; Vol. 104 (6), pp. 1210-1222. Date of Electronic Publication: 2019 May 09.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Variation*
Heterozygote*
DNA-Binding Proteins/*genetics
Epilepsy/*etiology
Neurodevelopmental Disorders/*etiology
Adolescent ; Adult ; Child ; Child, Preschool ; Epilepsy/pathology ; Female ; Haploinsufficiency ; Humans ; Infant ; Male ; Neurodevelopmental Disorders/pathology ; Pedigree ; Phenotype ; Young Adult
Czasopismo naukowe
    Wyświetlanie 1-14 z 14

    Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies