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Items: 20

Select item 113182751.

Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search

Dongye He, Mei Zhang, Yanying Li, Fupeng Liu, Bo Ban

Orphanet J Rare Dis. 2024; 19: 292. Published online 2024 Aug 12. doi: 10.1186/s13023-024-03301-y

PMCID:: PMC11318275

Abstract Article PDF–3.5M

Select item 107244962.

Clinical heterogeneity of polish patients with KAT6B–related disorder

Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert

Mol Genet Genomic Med. 2023 Dec; 11(12): e2265. Published online 2023 Sep 1. doi: 10.1002/mgg3.2265

PMCID:: PMC10724496

Abstract Article PDF–943K

Select item 106209443.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian

Genet Med. 2023 Jan; 25(1): 135–142. doi: 10.1016/j.gim.2022.09.016

PMCID:: PMC10620944

Abstract Article PDF–1.9M

Select item 99575224.

Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review

Eva-Cristiana Gavril, Irina Nucă, Monica-Cristina Pânzaru, Anca Viorica Ivanov, Cosmin-Teodor Mihai, Lucian-Mihai Antoci, Cristian-Gabriel Ciobanu, Cristina Rusu, Roxana Popescu

Genes (Basel) 2023 Feb; 14(2): 465. Published online 2023 Feb 11. doi: 10.3390/genes14020465

PMCID:: PMC9957522

Abstract Article PDF–2.1M

Select item 97593325.

Natural history of KBG syndrome in a large European cohort

Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Isis Atallah, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto

Hum Mol Genet. 2022 Dec 15; 31(24): 4131–4142. Published online 2022 Jul 21. doi: 10.1093/hmg/ddac167

PMCID:: PMC9759332

Abstract Article PDF–1.5M

Select item 93216046.

Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

Allan Bayat, Bjørg Krett, Morten Dunø, Pernille Mathiesen Torring, John Vissing

Am J Med Genet A. 2022 Jul; 188(7): 2251–2257. Published online 2022 Apr 7. doi: 10.1002/ajmg.a.62753

PMCID:: PMC9321604

Abstract Article PDF–9.4M

Select item 88648857.

Craniofacial and dentoalveolar morphology in individuals with Prader–Willi syndrome: a case-control study

Gisela Vasconcelos, Jo S. Stenehjem, Stefan Axelsson, Ronnaug Saeves

Orphanet J Rare Dis. 2022; 17: 77. Published online 2022 Feb 22. doi: 10.1186/s13023-022-02222-y

PMCID:: PMC8864885

Abstract Article PDF–947K

Select item 85959328.

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Matthew P. Wilson, Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha K. Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier-Barrot, Thierry Dupré, Helen Michelakakis, Agata Fiumara, James Pitt, Susan M. White, Sze Chern Lim, Lyndon Gallacher, Heidi Peters, Daisy Rymen, Peter Witters, Antonia Ribes, Blai Morales-Romero, Agustí Rodríguez-Palmero, Diana Ballhausen, Pascale de Lonlay, Rita Barone, Mirian C.H. Janssen, Jaak Jaeken, Hudson H. Freeze, Gert Matthijs, Eva Morava, Dirk J. Lefeber

Am J Hum Genet. 2021 Nov 4; 108(11): 2130–2144. Published online 2021 Oct 14. doi: 10.1016/j.ajhg.2021.09.012

PMCID:: PMC8595932

Abstract Article PDF–2.5M

Select item 85958999.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard, Pelin Ozlem Simsek-Kiper, Elif Yilmaz Gulec, Leila Essaddam, Gulen Eda Utine, Ingrid Guarnetti Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica Consoli, Cédric Vignal, Denis Hepbasli, Melanie Ullrich, Elke de Boer, Lisenka E.L.M. Vissers, Sami Gritli, Cesare Rossi, Alessandro De Luca, Saayda Ben Becher, Bruce D. Gelb, Bruno Dallapiccola, Antonella Lauri, Giovanni Chillemi, Kai Schuh, Hélène Cavé, Martin Zenker, Marco Tartaglia

Am J Hum Genet. 2021 Nov 4; 108(11): 2112–2129. Published online 2021 Oct 8. doi: 10.1016/j.ajhg.2021.09.007

PMCID:: PMC8595899

Abstract Article PDF–2.6M

Select item 858009410.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham, Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda

Mol Genet Genomic Med. 2021 Oct; 9(10): e1809. Published online 2021 Sep 14. doi: 10.1002/mgg3.1809

PMCID:: PMC8580094

Abstract Article PDF–2.2M

Select item 844769911.

A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report

Natalie C. Lippa, Subit Barua, Vimla Aggarwal, Elaine Pereira, Jennifer M. Bain

BMC Neurol. 2021; 21: 358. Published online 2021 Sep 16. doi: 10.1186/s12883-021-02380-9

PMCID:: PMC8447699

Abstract Article PDF–607K

Select item 837364812.

Shruti Pande, Periyasamy Radhakrishnan, Naveenchandra M Shetty, Anju Shukla, Katta Mohan Girisha

Am J Med Genet A. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Am J Med Genet A. 2021 Sep; 185(9): 2756–2765. Published online 2021 Mar 22. doi: 10.1002/ajmg.a.62186

PMCID:: PMC8373648

Abstract Article PDF–663K

Select item 814693813.

Stijn R. van de Plassche, Arjan P. M. de Brouwer

Genes (Basel) 2021 May; 12(5): 663. Published online 2021 Apr 28. doi: 10.3390/genes12050663

PMCID:: PMC8146938

Abstract Article PDF–2.4M

Select item 616982614.

Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features

Queenie K.-G. Tan, Heidi Cope, Rebecca C. Spillmann, Nicholas Stong, Yong-Hui Jiang, Marie T. McDonald, Jennifer A. Rothman, Megan W. Butler, Donald P. Frush, Ralph S. Lachman, Brendan Lee, Carlos A. Bacino, Melanie J. Bonner, Chad M. McCall, Avani A. Pendse, Nicole Walley, Undiagnosed Diseases Network, Vandana Shashi, Loren D.M. Pena

Cold Spring Harb Mol Case Stud. 2018 Oct; 4(5): a003046. doi: 10.1101/mcs.a003046

PMCID:: PMC6169826

Abstract Article PDF–4.0M

Select item 608076915.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello-Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange-Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M.A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martinez, Naomichi Matsumoto, Carey McDougall, Heather C. Mefford, Noriko Miyake, Candace T. Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Monica Rosello, Ken Saida, Avni B. Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, University of Washington Center for Mendelian Genomics, DDD Study, André Reis, Heinrich Sticht, Christiane Zweier

Am J Hum Genet. 2018 Aug 2; 103(2): 305–316. Published online 2018 Jul 26. doi: 10.1016/j.ajhg.2018.07.003

PMCID:: PMC6080769

Abstract Article PDF–1.8M

Select item 573557616.

KBG syndrome

Dayna Morel Swols, Joseph Foster, II, Mustafa Tekin

Orphanet J Rare Dis. 2017; 12: 183. Published online 2017 Dec 19. doi: 10.1186/s13023-017-0736-8

PMCID:: PMC5735576

Abstract Article PDF–921K

Select item 459689117.

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

Maha Faden, Fatema AlZahrani, Roberto Mendoza-Londono, Lucie Dupuis, Taila Hartley, Peter Kannu, Julian A. Raiman, Andrew Howard, Wen Qin, Martine Tetreault, Joan Qiongchao Xi, Imadeddin Al-Thamer, Care4Rare Canada Consortium, Richard L. Maas, Kym Boycott, Fowzan S. Alkuraya

Am J Hum Genet. 2015 Oct 1; 97(4): 608–615. Published online 2015 Sep 10. doi: 10.1016/j.ajhg.2015.08.007

PMCID:: PMC4596891

Abstract Article PDF–2.3M

Select item 413857818.

Thyroid Hormone Receptor α Mutation Causes a Severe and Thyroxine-Resistant Skeletal Dysplasia in Female Mice

J. H. Duncan Bassett, Alan Boyde, Tomas Zikmund, Holly Evans, Peter I. Croucher, Xuguang Zhu, Jeong Won Park, Sheue-yann Cheng, Graham R. Williams

Endocrinology. 2014 Sep; 155(9): 3699–3712. Published online 2014 Jun 10. doi: 10.1210/en.2013-2156

PMCID:: PMC4138578

Abstract Article

Select item 408558319.

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

Asbjørg Stray-Pedersen, Paul H. Backe, Hanne S. Sorte, Lars Mørkrid, Niti Y. Chokshi, Hans Christian Erichsen, Tomasz Gambin, Katja B.P. Elgstøen, Magnar Bjørås, Marcin W. Wlodarski, Marcus Krüger, Shalini N. Jhangiani, Donna M. Muzny, Ankita Patel, Kimiyo M. Raymond, Ghadir S. Sasa, Robert A. Krance, Caridad A. Martinez, Shirley M. Abraham, Carsten Speckmann, Stephan Ehl, Patricia Hall, Lisa R. Forbes, Else Merckoll, Jostein Westvik, Gen Nishimura, Cecilie F. Rustad, Tore G. Abrahamsen, Arild Rønnestad, Liv T. Osnes, Torstein Egeland, Olaug K. Rødningen, Christine R. Beck, Baylor-Johns Hopkins Center for Mendelian Genomics, Eric A. Boerwinkle, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Ekkehart Lausch, I. Celine Hanson

Am J Hum Genet. 2014 Jul 3; 95(1): 96–107. doi: 10.1016/j.ajhg.2014.05.007