Human Genome Epidemiology Literature Finder
Reproductive and Child Health
Records 1 - 30 (of 766 Records) |
Query Trace: Developmental Disabilities Or Developmental Disorders Or Intellectual Disorder Or Intellectual Disability[original query] |
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Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations. Journal of human genetics 2023 9 . Xin Pan, Sihan Liu, Xiaoshu Feng, Li Liu, Xu Zhang, Guanhua Qian, Na Liang, Hong Yao, Xiaojing Dong, Bo T |
A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review. Journal of genetics 2023 9 102 . Fatemeh Shakarami, Zahra Nouri, Hossein Khanahmad, Mohamadreza Ghazavi, Mohammad Amin Tabatabaief |
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation. American journal of medical genetics. Part A 2023 9 . Emanuele Crincoli, Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Roberta Mattei, Marco Tartaglia, Fiammetta Catania, Stanislao Rizzo, Giuseppe Zampino, Annabella Saler |
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients. Orphanet journal of rare diseases 2023 9 18 (1): 284. Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-En Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wa |
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability. Archives of Iranian medicine 2023 8 25 (12): 788-797. Naeim Ehtesham, Meysam Mosallaei, Maryam Beheshtian, Shahrouz Khoshbakht, Mahsa Fadaee, Raheleh Vazehan, Mehrshid Faraji Zonooz, Parvaneh Karimzadeh, Kimia Kahrizi, Hossein Najmaba |
NEXMIF variants are associated with epilepsy with or without intellectual disability. Seizure 2023 8 . Zi-Long Ye, Hong-Jun Yan, Qing-Hui Guo, Shu-Qian Zhang, Sheng Luo, Ya-Jun Lian, Yun-Qing Ma, Xin-Guo Lu, Xiao-Rong Liu, Nan-Xiang Shen, Liang-Di Gao, Zheng Chen, Yi-Wu S |
Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders. Frontiers in pediatrics 2023 8 11 1172154. Tania Cuppens, Julie Shatto, Loïc Mangnier, Ajay A Kumar, Andy Cheuk-Him Ng, Manpreet Kaur, Truong An Bui, Mickael Leclercq, Arnaud Droit, Ian Dunham, Francois V Bold |
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype. Italian journal of pediatrics 2023 8 49 (1): 99. Andrea Querzani, Fabio Sirchia, Gianluca Rustioni, Alessandra Rossi, Alessandro Orsini, Gian Luigi Marseglia, Salvatore Savasta, Luisa Chiapparini, Thomas Foiadel |
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype. Annals of human genetics 2023 8 . Irem Kalay, Cagri Gulec, Mehmet Cihan Balc?, Guven Toksoy, Gulden Gokcay, Seher Basaran, Mubeccel Demirkol, Zehra Oya Uygun |
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv : the preprint server for health sciences 2023 7 . Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia Maas, Bénédicte Gerard, Thomas Smol, Catherine Vincent-Delorme, Benjamin Cogné, Bertrand Isidor, Marie Vincent, Ruxandra Bachmann-Gagescu, Anita Rauch, Pascal Joset, Giovanni Battista Ferrero, Andrea Ciolfi, Thomas Husson, Anne-Marie Guerrot, Carlos Bacino, Colleen Macmurdo, Stephanie S Thompson, Jill A Rosenfeld, Laurence Faivre, Frederic Tran Mau-Them, Wallid Deb, Virginie Vignard, Pankaj B Agrawal, Jill A Madden, Alice Goldenberg, François Lecoquierre, Michael Zech, Holger Prokisch, Ján Necpál, Robert Jech, Juliane Winkelmann, Monika Tur?anová Koprušáková, Vassiliki Konstantopoulou, John R Younce, Marwan Shinawi, Chloe Mighton, Charlotte Fung, Chantal Morel, Jordan Lerner- Ellis, Stephanie DiTroia, Magalie Barth, Dominique Bonneau, Ingrid Krapels, Sander Stegmann, Vyne van der Schoot, Theresa Brunet, Cornelia Bußmann, Cyril Mignot, Thomas Courtin, Claudia Ravelli, Boris Keren, Alban Ziegler, Linda Hasadsri, Pavel N Pichurin, Eric W Klee, Katheryn Grand, Pedro A Sanchez-Lara, Elke Krüger, Stéphane Bézieau, Hannah Klinkhammer, Peter Michael Krawitz, Evan E Eichler, Marco Tartaglia, Sébastien Küry, Tianyun Wa |
Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy. Frontiers in molecular neuroscience 2023 7 16 1205265. Jia Ye, Siyang Tang, Pu Miao, Zhefeng Gong, Qiang Shu, Jianhua Feng, Yuezhou |
17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation. Molecular cytogenetics 2023 7 16 (1): 15. Nikhil Shri Sahajpal, David H F Jeffrey, Barbara R DuPont, Benjamin Hilt |
Proximal 1q21 duplication: A syndrome or a susceptibility locus? American journal of medical genetics. Part A 2023 6 . Michal Levy, Mordechai Shohat, Sarit Kahana, Reut Matar, Kochav Klein, Ifat Agmon Fishman, Merav Gurevitch, Lina Basel-Salmon, Idit Ma |
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. American journal of human genetics 2023 6 . Long Guo, Smrithi Salian, Jing-Yi Xue, Nicola Rath, Justine Rousseau, Hyunyun Kim, Sophie Ehresmann, Shahida Moosa, Norio Nakagawa, Hiroshi Kuroda, Jill Clayton-Smith, Juan Wang, Zheng Wang, Siddharth Banka, Adam Jackson, Yan-Min Zhang, Zhen-Jie Wei, Irina Hüning, Theresa Brunet, Hirofumi Ohashi, Molly F Thomas, Caleb Bupp, Noriko Miyake, Naomichi Matsumoto, Roberto Mendoza-Londono, Gregory Costain, Gabriele Hahn, Nataliya Di Donato, Gökhan Yigit, Takahiro Yamada, Gen Nishimura, K Mark Ansel, Bernd Wollnik, Martin Hrab? de Angelis, André Mégarbané, Jill A Rosenfeld, Vigo Heissmeyer, Shiro Ikegawa, Philippe M Campe |
KMT2B-related dystonia in Indian patients with literature review and emphasis on Asian cohort. Journal of movement disorders 2023 6 . Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar P |
De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature. Frontiers in pediatrics 2023 5 11 1097062. Yingxiao Shen, Xiaoqin Xu, Jiansong Chen, Jingjing Wang, Guanping Dong, Ke Huang, Junfen Fu, Dingwen Wu, Wei |
[Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 648-654. Yangyan Li, Dongzhu Lei, Caiyun Li, Dongqun Huang, Jufang Tan, Haoqing Zha |
Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability. Children (Basel, Switzerland) 2023 5 10 (4): . Sajjad Karim, Ibtessam Ramzi Hussein, Hans-Juergen Schulten, Saad Alsaedi, Zeenat Mirza, Mohammed Al-Qahtani, Adeel Chaudha |
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Human genetics 2023 5 . Gianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotovi?, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Bariši?, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petkovi? Ramadža, Ivo Bari?, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Na |
Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis. PloS one 2023 5 18 (5): e0273957. Nika Rihar, Danijela Krgovic, Nadja Kokalj-Voka?, Spela Stangler-Herodez, Minja Zorc, Peter Do |
Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study. The Journal of pediatrics 2023 5 113451. Michaela Semeraro, Cyrielle Fouquet, Yoann Vial, Jeanne Amiel, Louise Galmiche, Célia Cretolle, Thomas Blanc, Valérie Jolaine, Nicolas Garcelon, Natacha Entz-Werle, Isabelle Pellier, Cécile Vérité, SophieTaque, Aurore Coulomb, Arnaud Petit, Nadège Corradini, Naim Bouazza, Brigitte Lacour, Jacqueline Clavel, Laurence Brugières, Franck Bourdeaut, Sabine Sarnacki, |
Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome. Frontiers in genetics 2023 4 14 1085210. Lin Yunting, Chen Xiaohong, Xie Bobo, Guan Zhihong, Chen Xiaodan, Li Xiuzhen, Yi Peng, Du Rong, Mei Huifen, Liu Li, Zhang Wen, Zeng Chunh |
Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective. European journal of pediatrics 2023 4 . Galli Jessica, Loi Erika, Dusi Laura, Pasini Nadia, Rossi Andrea, Scaglioni Vera, Mauri Lucia, Fazzi Eli |
Genetic modifiers of rare variants in monogenic developmental disorder loci. Nature genetics 2024 4 . Rebecca Kingdom, Robin N Beaumont, Andrew R Wood, Michael N Weedon, Caroline F Wrig |
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders. Scientific reports 2024 4 14 (1): 8708. Emilie M Wigdor, Kaitlin E Samocha, Ruth Y Eberhardt, V Kartik Chundru, Helen V Firth, Caroline F Wright, Matthew E Hurles, Hilary C Mart |
Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype. Frontiers in genetics 2024 4 15 1331278. Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krau |
Clinical application of whole exome sequencing technology in small-for-gestational-age children. American journal of translational research 2024 1 15 (12): 6813-6822. Yunyun Xie, Xiaolu Qiu, Jun Gong, Yufeng Yuan, Dan Xie, Shouming |
Deep generative modeling of the human proteome reveals over a hundred novel genes involved in rare genetic disorders. Research square 2024 1 . Debora Marks, Rose Orenbuch, Aaron Kollasch, Hansen Spinner, Courtney Shearer, Thomas Hopf, Dinko Franceschi, Mafalda Dias, Jonathan Fraz |
First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2024 1 . Manal Elidrissi Errahhali, Mounia Elidrissi Errahhali, Sara Ramdani, Saida Lhousni, Noufissa Benajiba, Maria Rkain, Abdeladim Babakhouya, Aziza Elouali, Ayad Ghanam, Rim Amrani, Sahar Messaoudi, Anass Ayyad, Bouchra Oneib, Ahmed Mimouni, Hanane Saadi, Sanae Allaoui, Meryem Ouarzane, Agnès Guichet, Majida Charif, Redouane Boulouiz, Mohammed Bellao |
The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants. BMC pediatrics 2024 1 24 (1): 60. Bo Bi, Xiaohong Chen, Shan Huang, Min Peng, Weiyue Gu, Hongmin Zhu, Yangcan Mi |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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