AUTOSOMAL DOMINANT INTELLECTUAL DISABILITY 43-NOT ALWAYS DE NOVO.

被引：0

作者：

Abreu, Maria ^{[1
]}

Figueiroa, Sonia ^{[2
]}

Cerqueira, Rita ^{[3
]}

Basto, Jorge Pinto ^{[3
]}

Fortuna, Ana Maria ^{[1
,4
]}

Reis, Claudia Falcao ^{[5
,6
,7
]}

机构：

[1] Ctr Hosp Univ Porto CHUP, Med Genet Dept, Ctr Genet Med Jacinto de Magalhaaes CGMJM, Porto, Portugal

[2] Ctr Hosp Univ Porto, Div Pediat Neurol, Dept Child & Adolescent, Porto, Portugal

[3] Unilabs, Lab Diagnost Mol & Genom Clin, CGC Genet, Porto, Portugal

[4] Inst Ciencias Biomed Abel Salazar, Unit Multidisciplinary Res Biomed UMIB, Porto, Portugal

[5] CHP, Med Genet Dept, CGMJM, Porto, Portugal

[6] Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Med, Braga, Portugal

[7] ICVS 3Bs PT Govt Associate Lab, Braga, Portugal

来源：

MEDICINE | 2021年 / 100卷 / 04期

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

P54

引用

页数：1

共 50 条

[31] De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Ito, Yoko
Carss, Keren J.
Duarte, Sofia T.
Hartley, Taila
Keren, Boris
Kurian, Manju A.
Marey, Isabelle
Charles, Perinne
Mendonca, Carla
Nava, Caroline
Pfundt, Rolph
Sanchis-Juan, Alba
van Bokhoven, Hans
van Essen, Anthony
van Ravenswaaij-Arts, Conny
Boycott, Kym M.
Kernohan, Kristin D.
Dyack, Sarah
Raymond, F. Lucy
AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (01) : 144 - 153
[32] De novo variants underlying syndromes with intellectual disability in a neurodevelopmental cohort from India
Shukla, Anju
Pande, Shruti
Nair, Karthik
Majethia, Purvi
Rao, Lakshmi Priya
Mascarenhas, Selinda
Kaur, Namanpreet
do Rosario, Michelle C.
Chaurasia, Ankur
Hunakunti, Bhagesh
Jadhav, Nalesh
Xavier, Sruthy
Kumar, Jeevan
Bhat, Vivekananda
Bhavani, Gandham Sri Lakshmi
Narayanan, Dhanya Lakshmi
Yatheesha, B. L.
Patil, Siddaramappa J.
Nampoothiri, Sheela
Kamath, Nutan
Aroor, Shrikiran
Bhat, Ramesh
Lewis, Leslie Edward S.
Sharma, Suvasini
Bajaj, Shruti
Sankhyan, Naveen
Siddiqui, Shahyan
Nayak, Shalini
Bielas, Stephanie
Girisha, Katta
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 468 - 469
[33] De novo ARX mutations in female patients with agenesis of the corpus callosum and intellectual disability
Taveira, M.
Heide, S.
Mignot, C.
Milh, M.
Rastetter, A.
Jacquette, A.
Charles, P.
Marey, I.
Whalen, S.
Keren, B.
Nava, C.
Heron, D.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 327 - 328
[34] De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies
Fritzen, Daniel
Kuechler, Alma
Grimmel, Mona
Becker, Jessica
Peters, Sophia
Sturm, Marc
Hundertmark, Hela
Schmidt, Axel
Kreiss, Martina
Strom, Tim M.
Wieczorek, Dagmar
Haack, Tobias B.
Beck-Woedl, Stefanie
Cremer, Kirsten
Engels, Hartmut
HUMAN GENETICS, 2018, 137 (05) : 401 - 411
[35] Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability
Wei, Aguan D.
Wakenight, Paul
Zwingman, Theresa A.
Bard, Angela M.
Sahai, Nikhil
Willemsen, Marjolein H.
Schelhaas, Helenius J.
Stegmann, Alexander P. A.
Verhoeven, Judith S.
de Man, Stella A.
Wessels, Marja W.
Kleefstra, Tjitske
Shinde, Deepali N.
Helbig, Katherine L.
Basinger, Alice
Wagner, Victoria F.
Rodriguez-Buritica, David
Bryant, Emily
Millichap, John J.
Millen, Kathleen J.
Dobyns, William B.
Ramirez, Jan-Marino
Kalume, Franck K.
JOURNAL OF NEUROPHYSIOLOGY, 2022, 128 (01) : 40 - 61
[36] De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Horn, Susanne
Au, Margaret
Basel-Salmon, Lina
Bayrak-Toydemir, Pinar
Chapin, Alexander
Cohen, Lior
Elting, Mariet W.
Graham, John M., Jr.
Gonzaga-Jauregui, Claudia
Konen, Osnat
Holzer, Max
Lemke, Johannes
Miller, Christine E.
Rey, Linda K.
Wolf, Nicole I.
Weiss, Marjan M.
Waisfisz, Quinten
Mirzaa, Ghayda M.
Wieczorek, Dagmar
Sticht, Heinrich
Abou Jamra, Rami
BRAIN, 2019, 142 : 3351 - 3359
[37] Three novel de novo variants in TAOK1 associated with intellectual disability
Mendes, Ariana
Rosas, Catarina Silva
Santos, Mafalda Saraiva
Carvalho, Ana
Ramos, Lina
Saraiva, Jorge M.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 185 - 186
[38] De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
Pan, Xueyang
Tao, Alice M.
Lu, Shenzhao
Ma, Mengqi
Hannan, Shabab B.
Slaugh, Rachel
Williams, Sarah Drewes
O'Grady, Lauren
Kanca, Oguz
Person, Richard
Carter, Melissa T.
Platzer, Konrad
Schnabel, Franziska
Abou Jamra, Rami
Roberts, Amy E.
Newburger, Jane W.
Revah-Politi, Anya
Granadillo, Jorge L.
Stegmann, Alexander P. A.
Sinnema, Margje
Accogli, Andrea
Salpietro, Vincenzo
Capra, Valeria
Ghaloul-Gonzalez, Lina
Brueckner, Martina
Simon, Marleen E. H.
Sweetser, David A.
Glinton, Kevin E.
Kirk, Susan E.
Wangler, Michael F.
Yamamoto, Shinya
Chung, Wendy K.
Bellen, Hugo J.
AMERICAN JOURNAL OF HUMAN GENETICS, 2024, 111 (04) : 742 - 760
[39] RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability
Minh Tuan Huynh
Beri-Dexheimer, Mylene
Bonnet, Celine
Bronner, Myriam
Khan, Asma Ali
Allou, Lila
Philippe, Christophe
Vigneron, Jacqueline
Jonveaux, Philippe
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (07) : 1782 - 1784
[40] Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
Waterham, Hans R.
Koster, Janet
Ebberink, Merel S.
Jesina, Pavel
Zeman, Jiri
Noskova, Lenka
Kmoch, Stanislav
Devic, Perrine
Cheillan, David
Wanders, Ronald J. A.
Ferdinandusse, Sacha
GENETICS IN MEDICINE, 2023, 25 (11)

← 1 2 3 4 5 →