PMC Articles for MedGen (Select 1740295) - PMC

Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A. McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen, J. Lloyd Holder, Jr

J Neurodev Disord. 2019; 11: 18. Published online 2019 Aug 8. doi: 10.1186/s11689-019-9276-y

PMCID:: PMC6688356

Abstract Article PDF–2.7M

Select item 67526775.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain, David S. Oleson, Megan E. Rech, Lara Segebrecht, Jill V. Hunter, John M. McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita S. Saenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard E. Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Munnich, Mieke van Haelst, Klaske D. Lichtenbelt, Koen van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise L. Perry, Ryan J. Taft, Marilyn Jones, Diane Masser-Frye, David Dyment, Sunita Venkateswaran, Chumei Li, Luis F. Escobar, Denise Horn, Rebecca C. Spillmann, Loren Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

Genet Med. 2019; 21(8): 1797–1807. Published online 2019 Jan 25. doi: 10.1038/s41436-019-0433-1

PMCID:: PMC6752677

Abstract Article PDF–1.5M

Select item 67854486.

A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

Daniel L. Polla, Harriet R. Saunders, Bert B. A. de Vries, Hans van Bokhoven, Arjan P. M. de Brouwer

Mol Genet Genomic Med. 2019 Oct; 7(10): e00861. Published online 2019 Aug 15. doi: 10.1002/mgg3.861

PMCID:: PMC6785448

Abstract Article PDF–620K

Select item 68372407.

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype

Laura S. Farach, Deborah A. Pearson, John P. Woodhouse, Jeremy M. Schraw, Mustafa Sahin, Darcy A. Krueger, Joyce Y. Wu, Elizabeth M. Bebin, Philip J. Lupo, Kit Sing Au, Hope Northrup

Pediatr Neurol. Author manuscript; available in PMC 2019 Nov 7.

Published in final edited form as: Pediatr Neurol. 2019 Jul; 96: 58–63. Published online 2019 Mar 13. doi: 10.1016/j.pediatrneurol.2019.03.003

PMCID:: PMC6837240

Abstract Article PDF–440K

Select item 69003698.

Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature

Fernanda T. Bellucco, Claudia B. de Mello, Vera A. Meloni, Maria Isabel Melaragno

Mol Genet Genomic Med. 2019 Dec; 7(12): e997. Published online 2019 Oct 1. doi: 10.1002/mgg3.997

PMCID:: PMC6900369

Abstract Article PDF–727K

Select item 69048269.

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

Julia Wang, Justine Rousseau, Emily Kim, Sophie Ehresmann, Yi-Ting Cheng, Lita Duraine, Zhongyuan Zuo, Ye-Jin Park, David Li-Kroeger, Weimin Bi, Lee-Jun Wong, Jill Rosenfeld, Joseph Gleeson, Eissa Faqeih, Fowzan S. Alkuraya, Klaas J. Wierenga, Jiani Chen, Alexandra Afenjar, Caroline Nava, Diane Doummar, Boris Keren, Jane Juusola, Markus Grompe, Hugo J. Bellen, Philippe M. Campeau

Am J Hum Genet. 2019 Dec 5; 105(6): 1237–1253. Published online 2019 Nov 27. doi: 10.1016/j.ajhg.2019.11.002

PMCID:: PMC6904826

Abstract Article PDF–4.5M

Select item 690630810.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

Renee Bend, Lior Cohen, Melissa T. Carter, Michael J. Lyons, Dmitriy Niyazov, Mohamad A. Mikati, Samantha K. Rojas, Richard E. Person, Yue Si, Ingrid M. Wentzensen, Regeneron Genetics Center, Erin Torti, Jennifer A. Lee, Kym M. Boycott, Lina Basel-Salmon, Carlos R. Ferreira, Claudia Gonzaga-Jauregui

Eur J Hum Genet. 2020 Jan; 28(1): 76–87. Published online 2019 Aug 8. doi: 10.1038/s41431-019-0487-1

PMCID:: PMC6906308

Abstract Article PDF–2.1M

Select item 659351311.

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E. R. Weiss, Gabriela Oprea, Shivendra Kishore, Katja Lohmann, Arndt Rolfs

J Neurodev Disord. 2019; 11: 11. Published online 2019 Jun 25. doi: 10.1186/s11689-019-9270-4

PMCID:: PMC6593513

Abstract Article PDF–1.1M

Select item 719646812.

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

Piero Pavone, Martino Ruggieri, Simona D. Marino, Giovanni Corsello, Xena Pappalardo, Agata Polizzi, Enrico Parano, Catia Romano, Silvia Marino, Andrea Domenico Praticò, Raffaele Falsaperla

Mol Genet Genomic Med. 2020 Apr; 8(4): e1109. Published online 2020 Jan 28. doi: 10.1002/mgg3.1109

PMCID:: PMC7196468

Abstract Article PDF–764K

Select item 733403013.

Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials

Charlotte DiStefano, Rujuta B. Wilson, Carly Hyde, Edwin H. Cook, Ronald L. Thibert, Lawrence T. Reiter, Vanessa Vogel-Farley, Joerg Hipp, Shafali Jeste

Am J Med Genet A. Author manuscript; available in PMC 2020 Jul 3.

Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 71–84. Published online 2019 Oct 26. doi: 10.1002/ajmg.a.61385

PMCID:: PMC7334030

Abstract Article PDF–599K

Select item 738914014.

3例MECP2重复综合征临床分析和文献复习

唐丹霞, 李栋方, 吴若豪, 张丽娜, 罗向阳

Zhongguo Dang Dai Er Ke Za Zhi. 2017 May 25; 19(5): 489–493. Chinese. doi: 10.7499/j.issn.1008-8830.2017.05.001

PMCID:: PMC7389140

Abstract Article PDF–1.7M

Select item 754179415.

A single episode of early-life status epilepticus impacts neonatal ultrasonic vocalization behavior in the Fmr1 knockout mouse

Jessica L. Huebschman, Samantha L. Hodges, Conner D. Reynolds, Suzanne O. Nolan, Joaquin N. Lugo

Epilepsy Behav. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Epilepsy Behav. 2020 Oct; 111: 107279. Published online 2020 Jul 18. doi: 10.1016/j.yebeh.2020.107279

PMCID:: PMC7541794

Abstract Article PDF–658K

Select item 772713216.

Psychomotor development and attention problems caused by a splicing variant of CNKSR2

Yi Zhang, Tingting Yu, Niu Li, Jiwen Wang, Jian Wang, Yihua Ge, Ruen Yao

BMC Med Genomics. 2020; 13: 182. Published online 2020 Dec 9. doi: 10.1186/s12920-020-00844-4

PMCID:: PMC7727132

Abstract Article PDF–1.2M

Select item 782062017.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

Anna R. Duncan, Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance Rodan, Jiahai Shi, Ann R. Seman, Emanuele Agolini, Antonio Novelli, Paolo Prontera, Maria J. Guillen Sacoto, Teresa Santiago-Sim, Aurélien Trimouille, Cyril Goizet, Mathilde Nizon, Ange-Line Bruel, Christophe Philippe, Patricia E. Grant, Monica H. Wojcik, Joan Stoler, Casie A. Genetti, Marieke F. van Dooren, Saskia M. Maas, Marielle Alders, Laurence Faivre, Arthur Sorlin, Grace Yoon, Binnaz Yalcin, Pankaj B. Agrawal

Am J Hum Genet. 2020 Dec 3; 107(6): 1170–1177. Published online 2020 Nov 23. doi: 10.1016/j.ajhg.2020.11.001

PMCID:: PMC7820620

Abstract Article PDF–1.6M

Select item 783950818.

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

Camille Tremblay‐Laganière, Rauan Kaiyrzhanov, Reza Maroofian, Thi Tuyet Mai Nguyen, Kamran Salayev, Ilana T. Chilton, Wendy K. Chung, Jill A. Madden, Chanika Phornphutkul, Pankaj B. Agrawal, Henry Houlden, Philippe M. Campeau

Clin Genet. 2021 Feb; 99(2): 313–317. Published online 2020 Nov 27. doi: 10.1111/cge.13877

PMCID:: PMC7839508

Abstract Article PDF–958K

Select item 1143171019.

Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review

Fabio Sirchia, Ivan Taietti, Myriam Donesana, Francesco Bassanese, Andrea Martina Clemente, Eliana Barbato, Alessandro Orsini, Alessandro Ferretti, Gian Luigi Marseglia, Salvatore Savasta, Thomas Foiadelli

Genes (Basel) 2024 Sep; 15(9): 1219. Published online 2024 Sep 18. doi: 10.3390/genes15091219

PMCID:: PMC11431710

Abstract Article PDF–4.1M

Select item 453244520.

Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment

Kerry A. Pettigrew, Emily Reeves, Ruth Leavett, Marianna E. Hayiou-Thomas, Anahita Sharma, Nuala H. Simpson, Angela Martinelli, Paul Thompson, Charles Hulme, Margaret J. Snowling, Dianne F. Newbury, Silvia Paracchini

PLoS One. 2015; 10(8): e0134997. Published online 2015 Aug 11. doi: 10.1371/journal.pone.0134997

PMCID:: PMC4532445

Abstract Article PDF–1.0M

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