Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 89, 期 2, 页码 295-301出版社
CELL PRESS
关键词
资金
- Fondo de Investigaciones Sanitarias of the Instituto de Salud Carlos III, Ministerio de Ciencia e Innovacion of Spain [PI081187]
作者
我是这篇论文的作者
推荐
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype
Paolo Fontana, Monia Ginevrino, Kristel Bejo, Giuseppina Cantalupo, Maria Ciavarella, Cinzia Lombardi, Marianna Maioli, Francesca Scarano, Claudia Costabile, Antonio Novelli, Fortunato Lonardo
EUROPEAN JOURNAL OF MEDICAL GENETICS (2021)
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Mio Aerden, Anne-Sophie Denomme-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Benedicte Gerard, Benoit Mazel, Christophe Philippe, Lucile Pinson, Clement Prouteau, Audrey Putoux, Frederic Tran Mau-Them, Eleonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amelie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortuem, Jasmin Lisfeld, Francois-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa Lopez-Gonzalez, Maria Kibaek, Pernille M. Torring, Alessandra Renieri, Lucia Pia Bruno, Katrin Ounap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
EUROPEAN JOURNAL OF HUMAN GENETICS (2023)
Ocular Phenotype Associated with DYRK1A Variants
Cecile Mejecase, Christopher M. Way, Nicholas Owen, Mariya Moosajee
GENES (2021)
Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, Go-Hun Seo, Duangrurdee Wattanasirichaigoon
GENES (2021)
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype
Adam Jackson, Siddharth Banka, Helen Stewart, Hannah Robinson, Simon Lovell, Jill Clayton-Smith
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W. Gripp, Jean Tori Pantel, Magdalena Danyel, Martin Atta Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frederic Ebstein, Elke Krueger, Sebastien Kuery, Stephane Bezieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Claudia Perne, Regina C. Betz, Tim Bender, Kathrin Grundmann-Hauser, Tobias B. Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J. Lyon, Malte Spielmann, Christian P. Schaaf, Stefan Mundlos, Markus M. Noethen, Peter M. Krawitz
NATURE GENETICS (2022)
Genotype-Phenotype Correlations in Angelman Syndrome
Lili Yang, Xiaoli Shu, Shujiong Mao, Yi Wang, Xiaonan Du, Chaochun Zou
GENES (2021)
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features
Jonathan C. Andrews, Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia Tifft, Ellen F. Macnamara, Bianca E. Russell, Lee-kai Wang, Stanley F. Nelson, Hugo J. Bellen, Shinya Yamamoto, May Christine V. Malicdan, Michael F. Wangler
GENETICS IN MEDICINE (2023)
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
Holly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, Elise Ng-Cordell, Abinayah John, Panayiotis Constantinou, Shelagh Joss, Martin Larsen, Christina Fagerberg, Lone Walentin Laulund, Jenny Thies, Frances Emslie, Marjolein Willemsen, Tjitske Kleefstra, Rolf Pfundt, Rebekah Barrick, Richard Chang, Lucy Loong, Majid Alfadhel, Jasper van der Smagt, Mathilde Nizon, Manju A. Kurian, Daniel J. Scott, Joshua J. Ziarek, Sarah L. Gordon, Kate Baker
GENETICS IN MEDICINE (2022)
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Jonathan Levy, Berenice Schell, Hala Nasser, Myriam Rachid, Lyse Ruaud, Nathalie Couque, Patrick Callier, Laurence Faivre, Nathalie Marle, Aafk Engwerda, Conny M. A. van Ravenswaaij-Arts, Morgane Plutino, Houda Karmous-Benailly, Caroline Benech, Sylvia Redon, Odil Boute, Elise Boudry Labis, Melanie Rama, Paul Kuentz, Jessica Assoumani, Lionel Van Maldergem, Celine Dupont, Alain Verloes, Anne-Claude Tabet
CLINICAL GENETICS (2021)
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene
Ryszard Slezak, Robert Smigiel, Ewa Obersztyn, Agnieszka Pollak, Mateusz Dawidziuk, Wojciech Wiszniewski, Monika Bekiesinska-Figatowska, Malgorzata Rydzanicz, Rafal Ploski, Pawel Gawlinski
GENES (2021)
Genotype-phenotype correlations in RHOBTB2- associated neurodevelopmental disorders
Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B. Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortuem, Delphine Heron, Cyril Mignot, Boris Keren, Susan Brooks, Christina Botti, Bruria Ben-Zeev, Emanuela Argilli, Elliot H. Sherr, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Somayeh Bakhtiari, Michael C. Kruer, Mustafa A. Salih, Alma Kuechler, Eric A. Muller, Karli Blocker, Outi Kuismin, Kristen L. Park, Aaina Kochhar, Kathleen Brown, Subhadra Ramanathan, Robin D. Clark, Magdeldin Elgizouli, Gia Melikishvili, Nazhi Tabatadze, Zornitza Stark, Ghayda M. Mirzaa, Jinfon Ong, Ute Grasshoff, Andrea Bevot, Lydia von Wintzingerode, Rami A. Jamra, Yvonne Hennig, Paula Goldenberg, Chadi Al Alam, Majida Charif, Redouane Boulouiz, Mohammed Bellaoui, Rim Amrani, Fuad Al Mutairi, Abdullah M. Tamim, Firdous Abdulwahab, Fowzan S. Alkuraya, Ebtissal M. Khouj, Javeria R. Alvi, Tipu Sultan, Narges Hashemi, Ehsan G. Karimiani, Farah Ashrafzadeh, Shima Imannezhad, Stephanie Efthymiou, Henry Houlden, Heinrich Sticht, Christiane Zweier
GENETICS IN MEDICINE (2023)
CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance
Han Zhang, Ye Wu, Yuwu Jiang
FRONTIERS IN PEDIATRICS (2021)
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation
Ken Saida, Tokiko Fukuda, Daryl A. Scott, Toru Sengoku, Kazuhiro Ogata, Annarita Nicosia, Andres Hernandez-Garcia, Seema R. Lalani, Mahshid S. Azamian, Haley Streff, Pengfei Liu, Hongzheng Dai, Takeshi Mizuguchi, Satoko Miyatake, Miki Asahina, Tsutomu Ogata, Noriko Miyake, Naomichi Matsumoto
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
Lauren Brady, Mark Ballantyne, John Duck, Thomas Fisker, Ryan Kleefman, Chumei Li, Landry Nfonsam, Lee-Anne Schultz, Mark Tarnopolsky, Elizabeth McCready
MOLECULAR GENETICS & GENOMIC MEDICINE (2023)
Undergrowth Of First Toe In PiK3CA-Related Overgrowth Spectrum (PROS)
Paloma Triana, Maria del Carmen Sarmiento, Lara Rodriguez-Laguna, Victor Martinez-Glez, Juan Carlos Lopez-Gutierrez
ANNALS OF VASCULAR SURGERY (2023)
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies
Luis Francisco Gonzalez Alvarez, Jair Tenorio-Castano, Fernando A. Poletta, Fernando Santos-Simarro, Pedro Arias, Natalia Gallego, Ieda Maria Orioli, Stefan Mundlos, Eduardo E. Castilla, Victor Martinez-Glez, Maria Luisa Martinez-Frias, Victor L. Ruiz-Perez, Julian Nevado, Pablo Lapunzina
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)
Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?
Shauna Quinn, Karl Kavanagh, Linda McArdle, David Betts, Sally-Ann Lynch
CLINICAL DYSMORPHOLOGY (2023)
The cost of rejection: an internal audit of the clinical genetics service active triage pathway at CHI Crumlin, Ireland
John Coleman, Karl Kavanagh, Sally Ann Lynch, Lisa Bradley
IRISH JOURNAL OF MEDICAL SCIENCE (2023)
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt
Elise Pelgrims, Sally Ann Lynch, Laurens Hannes, Mariette J. V. Hoffer, Cindy Melotte, Arie Van Haeringen, Ann Swillen, Jeroen Breckpot
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Kloeckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria L. Dentici, Marco Tartaglia, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti-Pierri, Deniz Torun, Mutluay Arslan, Mathilde F. Lauridsen, Oliver Murch, Rachel Irving, Sally A. Lynch, Sarju G. Mehta, Jenny Carmichael, Evelien Zonneveld-Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M. Johannesen, Ian T. Westphall, Susan S. Hughes, Sarah Smithson, Julie Evans, Tracy Dudding-Byth, Marleen Simon, Ellen van Binsbergen, Johanna C. Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S. Moller, Guido Rubboli, Allan Bayat
CLINICAL GENETICS (2023)
Leaving no one behind: Cerebral palsy in indigenous populations
Sally Ann Lynch
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2023)
Has the Toxicity of Therapeutic Deep Eutectic Systems Been Assessed?
Cristina B. Garcia, Julia Concha, Laura Cullere, Laura Lomba, Estela Sanguesa, M. Pilar Ribate
APPLIED SCIENCES-BASEL (2023)
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence, Jiwoo Kim, Wonwook Do, Benjamin Semeo, Olivia Katz, Devanshi Mehta, Nobuko Yamamoto, Emma Schindler, Zayd Al Rawi, Nina Wallace, Jonathan J. Wilde, Jennifer McCallum, Jinglan Liu, Dongbin Xu, Marie McDonald, Stefan Rentas, Ahmad Abou Tayoun, Zhang Zhe, Omar Abdul-Rahman, Bill Allen, Moris A. Angula, Kwame Anyane-Yeboa, Jesus Argente, Pamela H. Arn, Linlea Armstrong, Lina Basel-Salmon, Gareth Baynam, Lynne M. Bird, Daniel Bruegger, Gaik-Siew Ch'ng, David Chitayat, Robin Clark, Gerald F. Cox, Usha Dave, Elfrede DeBaere, Michael Field, John M. Graham, Karen W. Gripp, Robert Greenstein, Neerja Gupta, Randy Heidenreich, Jodi Hoffman, Robert J. Hopkin, Kenneth L. Jones, Marilyn C. Jones, Ariana Kariminejad, Jillene Kogan, Baiba Lace, Julian Leroy, Sally Ann Lynch, Marie McDonald, Kirsten Meagher, Nancy Mendelsohn, Ieva Micule, John M. Toimie, Sheela Nampoothiri, Kaoru Ohashi, Cynthia M. Powell, Subhadra Ramanathan, Salmo Raskin, Elizabeth Roeder, Marlene Rio, Alan F. Rope, Karan Sangha, Angela E. Scheuerle, Adele Schneider, Stavit Shalev, Victoria Siu, Rosemarie Smith, Cathy Stevens, Tinatin Tkemaladze, John Toimie, Helga Toriello, Anne Turner, Patricia G. Wheeler, Susan M. White, Terri Young, Kathleen M. Loomes, Mary Pipan, Ann Tokay Harrington, Elaine Zackai, Ramakrishnan Rajagopalan, Laura Conlin, Matthew A. Deardorff, Deborah McEldrew, Juan Pie, Feliciano Ramos, Antonio Musio, Antonie D. Kline, Kosuke Izumi, Sarah E. Raible, Ian D. Krantz
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
Sunwoo Lee, Eguzkine Ochoa, Magdalena Badura-Stronka, Deirdre Donnelly, Damien Lederer, Sally A. Lynch, Alice Gardham, Jenny Morton, Helen Stewart, France Docquier, Fay Rodger, Ezequiel Martin, Ana Toribio, Eamonn R. Maher, Meena Balasubramanian
EUROPEAN JOURNAL OF HUMAN GENETICS (2023)
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022)
Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J. M. Dingemans, Dmitrijs Rots, Lukas Lutje, Tazeen Ashraf, Rachel Baker, Mouna Barat-Houari, Brad Angle, Nicolas Chatron, Anne-Sophie Denomme-Pichon, Orrin Devinsky, Christele Dubourg, Frances Elmslie, Houda Zghal Elloumi, Laurence Faivre, Sarah Fitzgerald-Butt, David Genevieve, Jacqueline A. C. Goos, Benjamin M. Helm, Usha Kini, Amaia Lasa-Aranzasti, Gaetan Lesca, Sally A. Lynch, Irene M. J. Mathijssen, Ruth McGowan, Kristin G. Monaghan, Sylvie Odent, Rolph Pfundt, Audrey Putoux, Jeroen van Reeuwijk, Gijs W. E. Santen, Erina Sasaki, Arthur Sorlin, Peter J. van der Spek, Alexander P. A. Stegmann, Sigrid M. A. Swagemakers, Irene Valenzuela, Eleonore Viora-Dupont, Antonio Vitobello, Stephanie M. Ware, Mathys Weber, Christian Gilissen, Karen J. Low, Simon E. Fisher, Lisenka E. L. M. Vissers, Maggie M. K. Wong, Tjitske Kleefstra
GENETICS IN MEDICINE (2023)
Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay
Ann-Charlotte Thuresson, Jan Brazina, Talia Akram, Julia Albrecht, Niklas Dahl, Cecilia Soussi Zander, Keith W. Caldecott
MOLECULAR GENETICS & GENOMIC MEDICINE (2023)
Importance of Pharmacogenetics and Drug-Drug Interactions in a Kidney Transplanted Patient
Julia Concha, Estela Sanguesa, Ana M. Saez-Benito, Ignacio Aznar, Nuria Berenguer, Loreto Saez-Benito, M. Pilar Ribate, Cristina B. Garcia
LIFE-BASEL (2023)
A crowdsourcing database for the copy-number variation of the Spanish population
Daniel Lopez-Lopez, Gema Roldan, Jose Fernandez-Rueda, Gerrit Bostelmann, Rosario Carmona, Virginia Aquino, Javier Perez-Florido, Francisco Ortuno, Guillermo Pita, Rocio Nunez-Torres, Anna Gonzalez-Neira, Maria Pena-Chilet, Joaquin Dopazo
HUMAN GENOMICS (2023)