PMC Articles for MedGen (Select 899389) - PMC

Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti

Genes (Basel) 2023 Dec; 14(12): 2157. Published online 2023 Nov 29. doi: 10.3390/genes14122157

PMCID:: PMC10742575

Article PDF–1.4M

Select item 105014844.

Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape

Dezső David, João P. Freixo, Joana Fino, Inês Carvalho, Mariana Marques, Manuela Cardoso, Raul E. Piña-Aguilar, Cynthia C. Morton

Hum Genet. Author manuscript; available in PMC 2023 Sep 14.

Published in final edited form as: Hum Genet. 2020 Apr; 139(4): 531–543. Published online 2020 Feb 6. doi: 10.1007/s00439-020-02121-x

PMCID:: PMC10501484

Article PDF–1.2M

Select item 103302315.

Jansen-DeVries Syndrome: Expansion of the PPM1D Clinical and Phenotypic Spectrum in 34 Families

Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra-Clarke, Matthew Edwards, Casie A Genetti, Dorothy K Grange, Scott E Hickey, Bertrand Isidor, Sébastien Küry, Herbert M Lachman, Alinoe Lavillaureix, Michael J Lyons, Carlo Marcelis, Elysa J Marco, Julian A Martinez-Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J Prijoles, Evelise Riberi, Eric T Rush, Bianca E Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A Stevenson, Kate Wilson, Sandra Jansen, Bert B.A. deVries, Cynthia J Curry

Am J Med Genet A. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1900–1910. Published online 2023 May 14. doi: 10.1002/ajmg.a.63226

PMCID:: PMC10330231

Article PDF–2.1M

Select item 102978326.

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina

Genes (Basel) 2023 Jun; 14(6): 1179. Published online 2023 May 29. doi: 10.3390/genes14061179

PMCID:: PMC10297832

Article PDF–1.8M

Select item 102471937.

SYNGAP1基因变异相关常染色体显性智力障碍5型8例并文献复习

王晓乐, 田亚男, 陈晨, 彭镜

Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15; 25(5): 489–496. Chinese. doi: 10.7499/j.issn.1008-8830.2301054

PMCID:: PMC10247193

Article PDF–648K

Select item 101694118.

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer L Howe, Emanuele Agolini, Domenico A Coviello, Ingrid van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia P Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoit Mazel, Hana Safraou, Anne-Sophie Denommé-Pichon, Marjon A van Slegtenhorst, Noor Giesbertz, Richard H van Jaarsveld, Anna Childers, R Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D Buxbaum, Stephen W Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco

Brain. 2023 Feb; 146(2): 534–548. Published online 2022 Jul 27. doi: 10.1093/brain/awac278

PMCID:: PMC10169411

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Select item 99798409.

Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer’s disease: a cross-sectional study

Anna H. Boerwinkle, Brian A. Gordon, Julie Wisch, Shaney Flores, Rachel L. Henson, Omar H. Butt, Nicole McKay, Charles D. Chen, Tammie L.S. Benzinger, Anne M. Fagan, Benjamin L. Handen, Bradley T. Christian, Elizabeth Head, Mark Mapstone, William E. Klunk, Michael S. Rafii, Sid O’Bryant, Julie C. Price, Nicole Schupf, Charles M. Laymon, Sharon J. Krinsky-McHale, Florence Lai, H. Diana Rosas, Sigan L. Hartley, Shahid H. Zaman, Ira T. Lott, Wayne Silverman, Adam M. Brickman, Joseph H. Lee, Ricardo F. Allegri, Sarah B. Berman, Jasmeer P. Chhatwal, Carlos Cruchaga, Nick C. Fox, Alison M. Goate, Gregory S. Day, Neill R. Graff-Radford, Mathias Jucker, Jae-Hong Lee, Johannes Levin, Hiroshi Mori, Richard J. Perrin, Stephen Salloway, Peter R. Schofield, Chengjie Xiong, Celeste M. Karch, Jason Hassenstab, Eric McDade, Randall J. Bateman, Beau M. Ances, Alzheimer’s Biomarker Consortium-Down Syndrome, the Dominantly Inherited Alzheimer Network

Lancet Neurol. Author manuscript; available in PMC 2024 Jan 1.

Published in final edited form as: Lancet Neurol. 2023 Jan; 22(1): 55–65. doi: 10.1016/S1474-4422(22)00408-2

PMCID:: PMC9979840

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Select item 883080910.

Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects

Xiangrong Cui, Xueqing Wu, Hongwei Wang, Sanyuan Zhang, Wei Wang, Xuan Jing

Mol Genet Genomic Med. 2022 Feb; 10(2): e1863. Published online 2022 Jan 16. doi: 10.1002/mgg3.1863

PMCID:: PMC8830809

Article PDF–931K

Select item 825181511.

Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes

Arianna Ricciardello, Pasquale Tomaiuolo, Antonio M. Persico

Am J Med Genet A. 2021 Jul; 185(7): 2211–2233. Published online 2021 May 5. doi: 10.1002/ajmg.a.62222

PMCID:: PMC8251815

Article PDF–2.6M

Select item 776756912.

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Laura E. Meissner, Ellen F. Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Undiagnosed Diseases Network, Carlos R. Ferreira, Wadih M. Zein, Cynthia J. Tifft, David R. Adams

Mol Genet Genomic Med. 2020 Dec; 8(12): e1544. Published online 2020 Nov 7. doi: 10.1002/mgg3.1544

PMCID:: PMC7767569

Article PDF–495K

Select item 766737013.

A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome

Lianlian Yang, Fan Yang

Mol Genet Genomic Med. 2020 Nov; 8(11): e1496. Published online 2020 Sep 14. doi: 10.1002/mgg3.1496

PMCID:: PMC7667370

Article PDF–788K

Select item 753657314.

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

Francesca Cristofoli, Tonya Moss, Hannah W. Moore, Koen Devriendt, Heather Flanagan-Steet, Melanie May, Julie Jones, Filip Roelens, Carmen Fons, Anna Fernandez, Loreto Martorell, Angelo Selicorni, Silvia Maitz, Giuseppina Vitiello, Gerd Van der Hoeven, Steven A. Skinner, Mathieu Bollen, Joris R. Vermeesch, Richard Steet, Hilde Van Esch

Am J Hum Genet. 2020 Oct 1; 107(4): 753–762. Published online 2020 Sep 9. doi: 10.1016/j.ajhg.2020.08.015

PMCID:: PMC7536573

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Select item 677744715.

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

Paolo Prontera, Daniela Rogaia, Ester Sallicandro, Amedea Mencarelli, Valentina Imperatore, Gabriella Maria Squeo, Giuseppe Merla, Sandro Elisei, Danilo Moretti-Ferreira, Susanna Esposito, Gabriela Stangoni

Eur J Hum Genet. 2019 Aug; 27(8): 1260–1266. Published online 2019 Apr 1. doi: 10.1038/s41431-019-0385-6

PMCID:: PMC6777447

Article PDF–919K

Select item 648987116.

Novel West syndrome candidate genes in a Chinese cohort

Jing Peng, Ying Wang, Fang He, Chen Chen, Li‐Wen Wu, Li‐Fen Yang, Yu‐Ping Ma, Wen Zhang, Zi‐Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang

CNS Neurosci Ther. 2018 Dec; 24(12): 1196–1206. Published online 2018 Apr 17. doi: 10.1111/cns.12860

PMCID:: PMC6489871

Article PDF–1.0M

Select item 604338317.

Autosomal dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Rodero, Lien van Eyk, Elise Boucher-Brischoux, Alain Maertens de Noordhout, Ricardo Maré, Emmanuel Scalais, Fernand Pauly, François-Guillaume Debray, William Dobyns, Carolina Uggenti, Ji Woo Park, Sun Hur, John H Livingston, Yanick J Crow, Lionel Van Maldergem

Hum Mutat. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Hum Mutat. 2018 Aug; 39(8): 1076–1080. Published online 2018 Jun 4. doi: 10.1002/humu.23554

PMCID:: PMC6043383

Article PDF–562K

Select item 495000318.

Phenotypic insights into ADCY5‐associated disease

Florence C.F. Chang, Ana Westenberger, Russell C. Dale, Martin Smith, Hardev S. Pall, Belen Perez‐Dueñas, Padraic Grattan‐Smith, Robert A. Ouvrier, Neil Mahant, Bernadette C. Hanna, Matthew Hunter, John A. Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G.L. Morris, Alex Münchau, Detelina Grozeva, Keren J. Carss, Lucy Raymond, Manju A. Kurian, Christine Klein, Victor S.C. Fung

Mov Disord. 2016 Jul; 31(7): 1033–1040. Published online 2016 Apr 8. doi: 10.1002/mds.26598

PMCID:: PMC4950003

Article PDF–366K

Select item 491860819.

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

JINHO LEE, SUNG-CHUL JUNG, YOUNG BIN HONG, JEONG HYUN YOO, HEASOO KOO, JA HYUN LEE, HYUN DAE HONG, SANG-BEOM KIM, KI WHA CHUNG, BYUNG-OK CHOI

Mol Med Rep. 2016 Jul; 14(1): 33–40. Published online 2016 May 4. doi: 10.3892/mmr.2016.5209

PMCID:: PMC4918608

Article PDF–995K

Select item 486802320.

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

Valerie Maduro, Barbara N. Pusey, Praveen F. Cherukuri, Paul Atkins, Christèle du Souich, Rosemarie Rupps, Marjolaine Limbos, David R. Adams, Samarth S. Bhatt, Patrice Eydoux, Amanda E. Links, Anna Lehman, May C. Malicdan, Christopher E. Mason, Marie Morimoto, James C. Mullikin, Andrew Sear, Clara Van Karnebeek, Pawel Stankiewicz, William A. Gahl, Camilo Toro, Cornelius F. Boerkoel

Orphanet J Rare Dis. 2016; 11: 62. Published online 2016 May 14. doi: 10.1186/s13023-016-0439-6

PMCID:: PMC4868023

Article PDF–1.4M

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