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Select item 111618291.

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart

Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Marc‐Phillip Hitz, Gregor Dombrowsky, Friederike Cuello, J. David Brook, Siobhan Loughna

J Anat. 2024 Jul; 245(1): 70–83. Published online 2024 Feb 28. doi: 10.1111/joa.14033

PMCID:: PMC11161829

Abstract Article PDF–5.8M

Select item 105912492.

Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn – a Case Report

Fisal Rashid AlMatrifi, Ahmad Ayed Al-Shammari, Raed Mohamed Al Nefily, Rawan Abdulrahman AlAnazi, Abdulrahman Hamed Abdulwahab, Ahmed Sabry Ammar

Med Arch. 2023; 77(4): 319–322. doi: 10.5455/medarh.2023.77.319-322

PMCID:: PMC10591249

Abstract Article PDF–763K

Select item 105579133.

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia

Monica N. Valentin, Benjamin D. Solomon, Gabriele Richard, Carlos R. Ferreira, A. Yasmine Kirkorian

Am J Med Genet A. Author manuscript; available in PMC 2023 Oct 6.

Published in final edited form as: Am J Med Genet A. 2018 Nov; 176(11): 2451–2455. Published online 2018 Oct 5. doi: 10.1002/ajmg.a.40485

PMCID:: PMC10557913

Abstract Article PDF–2.1M

Select item 104963094.

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-en Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wang

Orphanet J Rare Dis. 2023; 18: 284. Published online 2023 Sep 11. doi: 10.1186/s13023-023-02878-0

PMCID:: PMC10496309

Abstract Article PDF–1.7M

Select item 100782915.

Kinetic networks identify TWIST2 as a key regulatory node in adipogenesis

Arun B. Dutta, Daniel S. Lank, Roza K. Przanowska, Piotr Przanowski, Lixin Wang, Bao Nguyen, Ninad M. Walavalkar, Fabiana M. Duarte, Michael J. Guertin

Genome Res. 2023 Mar; 33(3): 314–331. doi: 10.1101/gr.277559.122

PMCID:: PMC10078291

Abstract Article PDF–6.0M

Select item 94823946.

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene

Mirella Vinci, Petri Kursula, Donatella Greco, Maurizio Elia, Luigi Vetri, Carmelo Schepis, Valeria Chiavetta, Serena Donadio, Michele Roccella, Marco Carotenuto, Valentino Romano, Francesco Calì

Mol Genet Genomic Med. 2022 Sep; 10(9): e2012. Published online 2022 Jul 5. doi: 10.1002/mgg3.2012

PMCID:: PMC9482394

Abstract Article PDF–2.2M

Select item 92229137.

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity

Eman A. Rabie, Inas S. M. Sayed, Khalda Amr, Hoda A. Ahmed, Mostafa I. Mostafa, Nehal F. Hassib, Heba El-Sayed, Suher K. Zada, Ghada El-Kamah

Genes (Basel) 2022 Jun; 13(6): 1056. Published online 2022 Jun 13. doi: 10.3390/genes13061056

PMCID:: PMC9222913

Abstract Article PDF–9.1M

Select item 90697888.

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene

Gregorio Serra, Sofia Felice, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Ettore Piro, Giovanni Corsello

Ital J Pediatr. 2022; 48: 65. Published online 2022 May 4. doi: 10.1186/s13052-022-01241-6

PMCID:: PMC9069788

Abstract Article PDF–1.1M

Select item 90603909.

Mouse Models in Palate Development and Orofacial Cleft Research: Understanding the crucial role and regulation of epithelial integrity in facial and palate morphogenesis

Yu Lan, Rulang Jiang

Curr Top Dev Biol. Author manuscript; available in PMC 2023 Feb 28.

Published in final edited form as: Curr Top Dev Biol. 2022; 148: 13–50. Published online 2022 Feb 28. doi: 10.1016/bs.ctdb.2021.12.003

PMCID:: PMC9060390

Abstract Article PDF–1.6M

Select item 847990710.

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up

Gregorio Serra, Vincenzo Antona, Mario Giuffré, Federica Li Pomi, Lucia Lo Scalzo, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello

Ital J Pediatr. 2021; 47: 196. Published online 2021 Sep 28. doi: 10.1186/s13052-021-01152-y

PMCID:: PMC8479907

Abstract Article PDF–717K

Select item 792289111.

Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells

Noe E. Crespo, Alexandra Torres-Bracero, Jessicca Y. Renta, Robert J. Desnick, Carmen L. Cadilla

Int J Environ Res Public Health. 2021 Feb; 18(4): 1997. Published online 2021 Feb 19. doi: 10.3390/ijerph18041997

PMCID:: PMC7922891

Abstract Article PDF–66M

Select item 790122012.

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

Laura Körber, Holm Schneider, Nicole Fleischer, Sigrun Maier-Wohlfart

Orphanet J Rare Dis. 2021; 16: 98. Published online 2021 Feb 23. doi: 10.1186/s13023-021-01735-2

PMCID:: PMC7901220

Abstract Article PDF–960K

Select item 689618513.

Meta-Analysis of Grainyhead-Like Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways

Nishanthi Mathiyalagan, Lee B. Miles, Peter J. Anderson, Tomasz Wilanowski, Brian L. Grills, Stuart J. McDonald, M. Cristina Keightley, Agata Charzynska, Michal Dabrowski, Sebastian Dworkin

Genes (Basel) 2019 Nov; 10(11): 876. Published online 2019 Oct 31. doi: 10.3390/genes10110876

PMCID:: PMC6896185

Abstract Article PDF–810K

Select item 584537214.

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault

BMC Med Genet. 2018; 19: 41. Published online 2018 Mar 9. doi: 10.1186/s12881-018-0556-2

PMCID:: PMC5845372

Abstract Article PDF–757K

Select item 554175015.

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle

Jørgen S. Agerholm, Fintan J. McEvoy, Steffen Heegaard, Carole Charlier, Vidhya Jagannathan, Cord Drögemüller

BMC Genet. 2017; 18: 74. Published online 2017 Aug 2. doi: 10.1186/s12863-017-0541-3

PMCID:: PMC5541750

Abstract Article PDF–1.4M

Select item 552007716.

Genotype and phenotype spectrum of NRAS germline variants

Franziska Altmüller, Christina Lissewski, Debora Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M White, Marena R Niewisch, Sixto García-Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker

Eur J Hum Genet. 2017 Jul; 25(7): 823–831. Published online 2017 May 3. doi: 10.1038/ejhg.2017.65

PMCID:: PMC5520077

Abstract Article PDF–942K

Select item 506511917.

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

Alon Peled, Ofer Sarig, Liat Samuelov, Marta Bertolini, Limor Ziv, Daphna Weissglas-Volkov, Marina Eskin-Schwartz, Christopher A. Adase, Natalia Malchin, Ron Bochner, Gilad Fainberg, Ilan Goldberg, Koji Sugawara, Avital Baniel, Daisuke Tsuruta, Chen Luxenburg, Noam Adir, Olivier Duverger, Maria Morasso, Stavit Shalev, Richard L. Gallo, Noam Shomron, Ralf Paus, Eli Sprecher

PLoS Genet. 2016 Oct; 12(10): e1006369. Published online 2016 Oct 13. doi: 10.1371/journal.pgen.1006369

PMCID:: PMC5065119

Abstract Article PDF–2.4M

Select item 476937618.

Setleis syndrome: Clinical, molecular and structural studies of the first TWIST2 missense mutation

R. Ozgur Rosti, Z. Oya Uyguner, Irina Nazarenko, Mehmet Bekerecioglu, Carmen L. Cadilla, Hilal Ozgur, Beom Hee Lee, Aneel K. Aggarwal, Sacide Pehlivan, Robert J. Desnick

Clin Genet. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: Clin Genet. 2015 Nov; 88(5): 489–493. Published online 2014 Dec 11. doi: 10.1111/cge.12539

PMCID:: PMC4769376

Abstract Article PDF–867K

Select item 448087119.

Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy?

Małgorzata J.M. Nowaczyk, Brandi A. Thompson, Susan Zeesman, Ute Moog, Pedro A. Sanchez-Lara, Pilar L. Magoulas, Rena E. Falk, Julie Hoover Fong, Denise A.S. Batista, Shivarajan M. Amudhavalli, Sue M. White, Gail E. Graham, Katherine A. Rauen

Clin Genet. Author manuscript; available in PMC 2015 Jun 25.

Published in final edited form as: Clin Genet. 2014 Feb; 85(2): 138–146. Published online 2013 Apr 2. doi: 10.1111/cge.12116

PMCID:: PMC4480871

Abstract Article PDF–485K

Select item 413541220.

Variability in dentofacial phenotypes in four families with WNT10A mutations

Christian P Vink, Charlotte W Ockeloen, Sietske ten Kate, David A Koolen, Johannes Kristian Ploos van Amstel, Anne-Marie Kuijpers-Jagtman, Celeste C van Heumen, Tjitske Kleefstra, Carine E L Carels

Eur J Hum Genet. 2014 Sep; 22(9): 1063–1070. Published online 2014 Jan 8. doi: 10.1038/ejhg.2013.300

PMCID:: PMC4135412

Abstract Article PDF–1.0M

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