PMC Links for GEO Profiles (Select 112038563) - PMC

Select item 94193771.

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Jolanta Wierzba, Aleksander Jamsheer

Orphanet J Rare Dis. 2022; 17: 325. Published online 2022 Aug 26. doi: 10.1186/s13023-022-02480-w

PMCID:: PMC9419377

Select item 71699832.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 65709643.

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit, Vajira Harshadeva Weerabaddana Dissanayake

BMC Med Genet. 2019; 20: 108. Published online 2019 Jun 14. doi: 10.1186/s12881-019-0839-2

PMCID:: PMC6570964

Abstract Article PDF–7.1M

Select item 57280864.

Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation

Jeffrey D. Stevens, Eric H. Roalson, Michael K. Skinner

Differentiation. Author manuscript; available in PMC 2017 Dec 13.

Published in final edited form as: Differentiation. 2008 Nov; 76(9): 1006–1022. Published online 2008 Jun 4. doi: 10.1111/j.1432-0436.2008.00285.x

PMCID:: PMC5728086

Abstract Article PDF–2.4M

Select item 42599255.

Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

Sajid Malik, Ferda E. Percin, Dorothea Bornholdt, Beate Albrecht, Antonio Percesepe, Manuela C. Koch, Antonio Landi, Barbara Fritz, Rizwan Khan, Sara Mumtaz, Nurten A. Akarsu, Karl-Heinz Grzeschik

Am J Hum Genet. 2014 Dec 4; 95(6): 649–659. doi: 10.1016/j.ajhg.2014.10.012

PMCID:: PMC4259925

Abstract Article PDF–854K

Select item 42052786.

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

Eiko Nagata, Hiroki Kano, Fumiko Kato, Rie Yamaguchi, Shinichi Nakashima, Shinichiro Takayama, Rika Kosaki, Hidefumi Tonoki, Seiji Mizuno, Satoshi Watanabe, Koh-ichiro Yoshiura, Tomoki Kosho, Tomonobu Hasegawa, Mamori Kimizuka, Atsushi Suzuki, Kenji Shimizu, Hirofumi Ohashi, Nobuhiko Haga, Hironao Numabe, Emiko Horii, Toshiro Nagai, Hiroshi Yoshihashi, Gen Nishimura, Tatsushi Toda, Shuji Takada, Shigetoshi Yokoyama, Hiroshi Asahara, Shinichiro Sano, Maki Fukami, Shiro Ikegawa, Tsutomu Ogata

Orphanet J Rare Dis. 2014; 9: 125. Published online 2014 Oct 21. doi: 10.1186/s13023-014-0125-5

PMCID:: PMC4205278

Abstract Article PDF–2.2M

Select item 34950557.

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

Valeria Capra, Marisol Mirabelli-Badenier, Michela Stagnaro, Andrea Rossi, Elisa Tassano, Stefania Gimelli, Giorgio Gimelli

BMC Med Genet. 2012; 13: 93. Published online 2012 Oct 4. doi: 10.1186/1471-2350-13-93

PMCID:: PMC3495055

Abstract Article PDF–2.1M

Select item 31780598.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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