Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay
ARCHIVES OF DISEASE IN CHILDHOOD (2009)
期刊
ARCHIVES OF DISEASE IN CHILDHOOD
卷 94, 期 7, 页码 553-554出版社
B M J PUBLISHING GROUP
关键词
类别
作者
我是这篇论文的作者
推荐
Bannayan-Riley-Ruvalcaba syndrome with gingival hyperpigmentation and facial papules
Eva B. Niklinska, Eden Marie Lyons, Alexander Hicks, Jeffrey P. Zwerner, Sharon E. Albers
PEDIATRIC DERMATOLOGY (2021)
Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy
Svea Horn, Magdalena Danyel, Nina Erdmann, Felix Boschann, Cecilia Gunnarsson, Saskia Biskup, Jerome Juengling, Cornelia Potratz, Christine Prager, Angela M. Kaindl
FRONTIERS IN NEUROLOGY (2023)
Bannayan-Riley-Rubalcaba syndrome in pediatrics
Beth Sainz De La Pena-Hernandez, Bertha E. Guillen-Palacios
BOLETIN MEDICO DEL HOSPITAL INFANTIL DE MEXICO (2021)
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy
Lydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, Katie M. Chan, Christel Depienne, Orly Elpeleg, Maria Iascone, Whitley V. Kelley, Marie-Cecile Nassogne, Marcello Niceta, Lidia Pezzani, Nils Rahner, Nicole Revencu, Mir Reza Bekheirnia, Teresa Santiago-Sim, Marco Tartaglia, Michelle L. Thompson, Marina Trivisano, Julia Hentschel, Heinrich Sticht, Rami Abou Jamra, Henry Oppermann
GENETICS IN MEDICINE (2023)
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Charlotte von der Lippe, Kristian Tveten, Trine E. Prescott, Oystein L. Holla, Oyvind L. Busk, Katherine B. Burke, Francis H. Sansbury, Julia Baptista, Andrew E. Fry, Derek Lim, Stephen Jolles, Jennifer Evans, Deborah Osio, Carol Macmillan, Irene Bruno, Flavio Faltera, Salvador Climent, Roser Urreitzi, Janet Hoenicka, Francesc Palau, Ana S. A. Cohen, Kendra Engleman, Dihong Zhou, Shivarajan M. Amudhavalli, Mederic Jeanne, Frederique Bonnet-Brilhault, Jonathan Levy, Severine Drunat, Nicolas Derive, Marte G. Haug, Wenche M. Thorstensen
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
Ambrin Fatima, Jan Hoeber, Jens Schuster, Eriko Koshimizu, Carolina Maya-Gonzalez, Boris Keren, Cyril Mignot, Talia Akram, Zafar Ali, Satoko Miyatake, Junpei Tanigawa, Takayoshi Koike, Mitsuhiro Kato, Yoshiko Murakami, Uzma Abdullah, Muhammad Akhtar Ali, Rein Fadoul, Loora Laan, Casimiro Castillejo-Lopez, Maarika Liik, Zhe Jin, Bryndis Birnir, Naomichi Matsumoto, Shahid M. Baig, Joakim Klar, Niklas Dahl
AMERICAN JOURNAL OF HUMAN GENETICS (2021)
Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases
Rose Guo, Alyssa L. Rippert, Edward B. Cook, Cesar Augusto P. Alves, Lynne M. Bird, Kosuke Izumi
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie, Julia C. Bay, Kathryn M. Harper, Alvaro A. Beltran, Lorena J. Munoz, Liset Falcon Rodriguez, Michael C. Stankewich, Richard E. Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May, Louise Bier, Vimla Aggarwal, Grazia M. S. Mancini, Marjon A. van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer J. MacKenzie, Eva Brilstra, Koen L. I. van Gassen, Richard H. van Jaarsveld, Renske Oegema, Gretchen M. Parsons, Paul Mark, Ingo Helbig, Sarah E. McKeown, Robert Stratton, Benjamin Cogne, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V. Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T. Shieh, Amy Kritzer, Parul Jayakar, Evangeline Kurtz-Nelson, Raphael A. Bernier, Tianyun Wang, Evan E. Eichler, Ingrid M. B. H. van de Laar, Allyn McConkie-Rosell, Marie T. McDonald, Jennifer Kemppainen, Brendan C. Lanpher, Laura E. Schultz-Rogers, Lauren B. Gunderson, Pavel N. Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, Adriana S. Beltran, Michael T. Zimmermann, Brenda Temple, Sheryl S. Moy, Eric W. Klee, Queenie K. -G. Tan, Damaris N. Lorenzo
NATURE GENETICS (2021)
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Dong Li, Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brugger, Katheryn Grand, Kirsty McWalter, Maria J. Guillen Sacoto, Emma Wakeling, Jane Hurst, Michael E. March, Elizabeth J. Bhoj, Malgorzata J. M. Nowaczyk, Claudia Gonzaga-Jauregui, Mariam Mathew, Ashita Dava-Wala, Amy Siemon, Dennis Bartholomew, Yue Huang, Hane Lee, Julian A. Martinez-Agosto, Eva M. C. Schwaibold, Theresa Brunet, Daniela Choukair, Lynn S. Pais, Susan M. White, John Christodoulou, Dana Brown, Kristin Lindstrom, Theresa Grebe, Dov Tiosano, Matthew S. Kayser, Tiong Yang Tan, Matthew A. Deardorff, Yuanquan Song, Hakon Hakonarson
SCIENCE ADVANCES (2021)
Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review
Yanqing Zhang, Haozheng Zhang, Wei Wu, Dong Wang, Yuqiang Lv, Dongmei Zhao, Lingxiao Wang, Yi Liu, Kaihui Zhang
FRONTIERS IN GENETICS (2023)
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
Rachel Youjin Oh, Ashish R. Deshwar, Ashish Marwaha, Nesrin Sabha, Michael Tropak, Huayun Hou, Kyoko E. Yuki, Michael D. Wilson, Patrick Rump, Roelineke Lunsing, Noha Elserafy, Clara W. T. Chung, Stacy Hewson, Tanja Klein-Rodewald, Julia Calzada-Wack, Adrian Sanz-Moreno, Markus Kraiger, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe de Angelis, James Dowling, Andreas Schulze
GENETICS IN MEDICINE (2022)
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Giulia Fasano, Valentina Muto, Francesca Clementina Radio, Martina Venditti, Niloufar Mosaddeghzadeh, Simona Coppola, Graziamaria Paradisi, Erika Zara, Farhad Bazgir, Alban Ziegler, Giovanni Chillemi, Lucia Bertuccini, Antonella Tinari, Annalisa Vetro, Francesca Pantaleoni, Simone Pizzi, Libenzio Adrian Conti, Stefania Petrini, Alessandro Bruselles, Ingrid Guarnetti Prandi, Cecilia Mancini, Balasubramanian Chandramouli, Magalie Barth, Celine Bris, Donatella Milani, Angelo Selicorni, Marina Macchiaiolo, Michaela V. Gonfiantini, Andrea Bartuli, Riccardo Mariani, Cynthia J. Curry, Renzo Guerrini, Anne Slavotinek, Maria Iascone, Bruno Dallapiccola, Mohammad Reza Ahmadian, Antonella Lauri, Marco Tartaglia
NATURE COMMUNICATIONS (2022)
Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report
Subba Rao Indugula, Sofia Saenz Ayala, Francesco Vetrini, Alyce Belonis, Wenying Zhang
CLINICAL CASE REPORTS (2022)
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
D. L. Polla, E. J. Bhoj, J. B. G. M. Verheij, J. S. Klein Wassink-Ruiter, A. Reis, C. Deshpande, A. Gregor, K. Hill-Karfe, A. T. Vulto-van Silfhout, R. Pfundt, E. M. H. F. Bongers, H. Hakonarson, S. Berland, G. Gradek, S. Banka, K. Chandler, L. Gompertz, S. C. Huffels, C. T. R. M. Stumpel, R. Wennekes, A. P. A. Stegmann, W. Reardon, E. K. S. M. Leenders, B. B. A. de Vries, D. Li, E. Zackai, N. Ragge, S. A. Lynch, S. Cuddapah, H. van Bokhoven, C. Zweier, A. P. M. de Brouwer
GENETICS IN MEDICINE (2021)
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India
Amita Moirangthem, Kausik Mandal, Deepti Saxena, Priyanka Srivastava, Poonam Singh Gambhir, Neha Agrawal, Arya Shambhavi, Sheela Nampoothiri, Shubha R. Phadke
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)
HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family
Erina Sasaki, Ethna Phelan, Mary O'Regan, Abdul Halim Kassim, Jan Miletin, Corrina McMahon, Maureen J. O'Sullivan, Julia Baptista, Sally Ann Lynch
CLINICAL GENETICS (2022)
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans
Anne Guimier, Loic de Pontual, Stephen R. Braddock, Erin Torti, Luis A. Perez-Jurado, Patricia Munoz-Cabello, Montserrat Arumi, Kristin G. Monaghan, Hane Lee, Lee-kai Wang, Ilina D. Pluym, Sally Ann Lynch, Karen Stals, Sian Ellard, Cecile Muller, Lucile Houyel, Laurence Cohen, Stanislas Lyonnet, Fanny Bajolle, Jeanne Amiel, Christopher T. Gordon
HUMAN MOLECULAR GENETICS (2023)
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian
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)
Use of tissue samples in diagnosing diploid triploid mosaicism
Oisin Mahon, Aine Fox, Sally Ann Lynch, Katie Cunningham
BMJ CASE REPORTS (2022)
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)
A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy
John Coleman, Karl Kavanagh, Ian Kesterton, Ann-Marie Hegarty, Susan M. O'Connell, Sally Ann Lynch
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (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)
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Celeste Milani, Adamantia Deligiannopoulou, Angeles Garcia Cazorla, Se Song Jang, Natalia Julia-Palacios, Boris Keren, Robert Kopajtich, Sally Ann Lynch, Cyril Mignot, Catherine Moorwood, Christiane Neuhofer, Vincenzo Nigro, Anna Oostra, Holger Prokisch, Virginie Saillour, Nika Schuermans, Annalaura Torella, Patrick Verloo, Elise Yazbeck, Marcella Zollino, Robert Jech, Juliane Winkelmann, Jan Necpal, Tito Cali, Marisa Brini, Michael Zech
GENETICS IN MEDICINE (2023)
An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population
E. B. Forman, S. A. Lynch, I Knerr, A. Monavari, J. Hughes, R. Boruah, A. Green, E. Crushell
EUROPEAN JOURNAL OF PEDIATRICS (2023)