PMC Articles for MedGen (Select 1675627) - PMC

Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D. Overton, Jing Xiao, Ariel Martinez, Max Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah Elsea, Valérie Cormier-Daire, Carlos R. Ferreira

Bone. Author manuscript; available in PMC 2023 Sep 26.

Published in final edited form as: Bone. 2020 Apr; 133: 115219. Published online 2020 Jan 7. doi: 10.1016/j.bone.2019.115219

PMCID:: PMC10521254

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Select item 105124914.

“Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation

Wei-Liang Liu, Fang Li, Wei Chen, Lu Liu, Hai-jian Cheng, Zhi-Xu He, Rong Ai

BMC Pediatr. 2023; 23: 480. Published online 2023 Sep 21. doi: 10.1186/s12887-023-04314-5

PMCID:: PMC10512491

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Select item 104960815.

Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children

Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu

Mol Genet Genomic Med. 2023 Sep; 11(9): e2192. Published online 2023 May 10. doi: 10.1002/mgg3.2192

PMCID:: PMC10496081

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Select item 104634116.

Pulmonary hypertension— a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review

Xiao-xian Deng, Bo-wen Jin, Shan-shan Li, Hong-mei Zhou, Qun-shan Shen, Yun-yan Li

BMC Pediatr. 2023; 23: 429. Published online 2023 Aug 28. doi: 10.1186/s12887-023-04273-x

PMCID:: PMC10463411

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Select item 104485597.

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience

Yasemin Denkboy Öngen, Şebnem Özemri Sağ, Şehime Gülsün Temel, Erdal Eren

J Clin Res Pediatr Endocrinol. 2023 Sep; 15(3): 285–292. Published online 2023 Aug 23. doi: 10.4274/jcrpe.galenos.2023.2022-11-3

PMCID:: PMC10448559

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Select item 104235098.

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden

J Med Genet. 2023 Aug; 60(8): 791–796. Published online 2022 Dec 29. doi: 10.1136/jmg-2022-108566

PMCID:: PMC10423509

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Select item 104228809.

Abnormalities of pubertal development and gonadal function in Noonan syndrome

Giuseppa Patti, Marco Scaglione, Nadia Gabriella Maiorano, Giulia Rosti, Maria Teresa Divizia, Tiziana Camia, Elena Lucia De Rose, Alice Zucconi, Emilio Casalini, Flavia Napoli, Natascia Di Iorgi, Mohamad Maghnie

Front Endocrinol (Lausanne) 2023; 14: 1213098. Published online 2023 Jul 28. doi: 10.3389/fendo.2023.1213098

PMCID:: PMC10422880

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Select item 1034504910.

Defensive and offensive behaviours in a Kleefstra syndrome mouse model

Alejandra Alonso, Anumita Samanta, Jacqueline van der Meij, Liz van den Brand, Moritz Negwer, Irene Navarro Lobato, Lisa Genzel

Anim Cogn. 2023; 26(4): 1131–1140. Published online 2023 Mar 6. doi: 10.1007/s10071-023-01757-2

PMCID:: PMC10345049

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Select item 1030216411.

Precision medicine for long QT syndrome: patient-specific iPSCs take the lead

Yang Yu, Isabelle Deschenes, Ming-Tao Zhao

Expert Rev Mol Med. 2023; 25: e5. Published online 2023 Jan 4. doi: 10.1017/erm.2022.43

PMCID:: PMC10302164

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Select item 1029845312.

CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report

Ekaterina R. Tolmacheva, Jekaterina Shubina, Taisiya O. Kochetkova, Lubov’ V. Ushakova, Ekaterina L. Bokerija, Grigory S. Vasiliev, Galina V. Mikhaylovskaya, Ekaterina E. Atapina, Nadezhda V. Zaretskaya, Gennady T. Sukhikh, Denis V. Rebrikov, Dmitriy Yu. Trofimov

Genes (Basel) 2023 Jun; 14(6): 1177. Published online 2023 May 28. doi: 10.3390/genes14061177

PMCID:: PMC10298453

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Select item 1028664313.

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Marion Rolland, Christèle Dubourg, Auriane Cospain, Catherine Droitcourt, Laurent Pasquier

Pediatr Dermatol. 2022 May-Jun; 39(3): 434–437. Published online 2022 Mar 8. doi: 10.1111/pde.14969

PMCID:: PMC10286643

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Select item 1026040214.

Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model

Katherine A. Waugh, Ross Minter, Jessica Baxter, Congwu Chi, Matthew D. Galbraith, Kathryn D. Tuttle, Neetha P. Eduthan, Kohl T. Kinning, Zdenek Andrysik, Paula Araya, Hannah Dougherty, Lauren N. Dunn, Michael Ludwig, Kyndal A. Schade, Dayna Tracy, Keith P. Smith, Ross E. Granrath, Nicolas Busquet, Santosh Khanal, Ryan D. Anderson, Liza L. Cox, Belinda Enriquez Estrada, Angela L. Rachubinski, Hannah R. Lyford, Eleanor C. Britton, Katherine A. Fantauzzo, David J. Orlicky, Jennifer L. Matsuda, Kunhua Song, Timothy C. Cox, Kelly D. Sullivan, Joaquin M. Espinosa

Nat Genet. 2023; 55(6): 1034–1047. Published online 2023 Jun 5. doi: 10.1038/s41588-023-01399-7

PMCID:: PMC10260402

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Select item 1025880715.

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants

Alexander F. Gileta, Maria L. Helgeson, Jacqueline M. M. Leonard, Louise C. Pyle, Hari P. Subramanian, Kelly Arndt, Colin P. Hawkes, Daniela del Gaudio

Am J Med Genet A. Author manuscript; available in PMC 2023 Jun 12.

Published in final edited form as: Am J Med Genet A. 2021 Mar; 185(3): 889–893. Published online 2020 Dec 23. doi: 10.1002/ajmg.a.62023

PMCID:: PMC10258807

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Select item 1018337016.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P. Adam, Amber Begtrup, Debora R. Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, Maria J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussmann, Roger Ladda, Lisa A. Lansdon, Sebastian Lunke, Anne Mardy, Kirsty McWalters, Richard Person, Laura Raiti, Noriko Saitoh, Carol J. Saunders, Rhonda Schnur, Matej Skorvanek, Susan L. Sell, Anne Slavotinek, Bonnie R. Sullivan, Zornitza Stark, Joseph D. Symonds, Tara Wenger, Sacha Weber, Sandra Whalen, Susan M. White, Juliane Winkelmann, Michael Zech, Shimriet Zeidler, Kazuhiro Maeshima, Rolf W. Stottmann, Paul A. Trainor, K. Nicole Weaver

Am J Hum Genet. 2023 May 4; 110(5): 809–825. Published online 2023 Apr 18. doi: 10.1016/j.ajhg.2023.03.014

PMCID:: PMC10183370

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Select item 1017961717.

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

Aleksandra Szczawińska-Popłonyk, Eyal Schwartzmann, Zuzanna Chmara, Antonina Głukowska, Tomasz Krysa, Maksymilian Majchrzycki, Maurycy Olejnicki, Paulina Ostrowska, Joanna Babik

Int J Mol Sci. 2023 May; 24(9): 8317. Published online 2023 May 5. doi: 10.3390/ijms24098317

PMCID:: PMC10179617

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Select item 1010782518.

Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome

Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Francesca Cumbo, Simone Piga, Marco Tartaglia, Serena Licchelli, Maria Cristina Digilio, Stefano Vicari

Am J Med Genet C Semin Med Genet. 2022 Dec; 190(4): 510–519. Published online 2022 Dec 9. doi: 10.1002/ajmg.c.32025

PMCID:: PMC10107825

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Select item 1007166719.

White-Sutton syndrome and congenital heart disease: case report and literature review

Jing Duan, Yuanzhen Ye, Jianxiang Liao, Li Chen, Xia Zhao, Chao Liu, Jialun Wen

BMC Pediatr. 2023; 23: 158. Published online 2023 Apr 4. doi: 10.1186/s12887-023-03972-9

PMCID:: PMC10071667

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Select item 1000517920.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sarah E. Sheppard, Laura Bryant, Rochelle N. Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J. Watson, Victor Faundes, Yannis Duffourd, Pearl Lee, M. Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christèle Dubourg, Hubert Journel, Florence Demurger, Maureen Mulhern, Cigdem Akman, Natalie Lippa, Marisa Andrews, Dustin Baldridge, John Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M. Graham, Jr., Margaret Au, Laurence Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William Gahl, Cynthia Tifft, Ellen Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah Macklin-Mantia, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F. Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne-Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau-Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sébastien Moutton, Anna M. Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G. Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J. Kaiser, Alma Kuechler, Øyvind L. Busk, Lily Islam, Jacob A. Siedlik, Lindsay B. Henderson, Jane Juusola, Richard Person, Rhonda E. Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth J. Bhoj, Holly A. F. Stessman

Sci Adv. 2023 Mar; 9(10): eade1463. Published online 2023 Mar 10. doi: 10.1126/sciadv.ade1463

PMCID:: PMC10005179

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