PMC Articles for MedGen (Select 140870) - PMC

Select item 97847581.

Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are EFNB1 Variants Associated with Autoimmunity?

Sebla Güneş, Jiangping Wu, Berk Özyılmaz, Reyhan Deveci Sevim, Tolga Ünüvar, Ahmet Anık

Pharmaceuticals (Basel) 2022 Dec; 15(12): 1535. Published online 2022 Dec 10. doi: 10.3390/ph15121535

PMCID:: PMC9784758

Article PDF–1.9M

Select item 79836692.

Prenatal Diagnosis of Acromelic Frontonasal Dysostosis

Cristina Martínez-Payo, Fe Amalia García-Santiago, Karen E. Heath, Eduardo Gavin, Elena Mansilla-Aparicio

Mol Syndromol. 2021 Mar; 12(1): 41–45. Published online 2020 Dec 15. doi: 10.1159/000512304

PMCID:: PMC7983669

Article PDF–654K

Select item 78207263.

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism

Chunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, Justine Rousseau, Ah Jung Heo, Katherine Neas, Brett H. Graham, Jill A. Rosenfeld, Carlos A. Bacino, Matias Wagner, Maren Wenzel, Fuad Al Mutairi, Hamad Al Deiab, Joseph G. Gleeson, Valentina Stanley, Maha S. Zaki, Yong Tae Kwon, Michel R. Leroux, Philippe M. Campeau

Am J Hum Genet. 2021 Jan 7; 108(1): 134–147. Published online 2020 Dec 18. doi: 10.1016/j.ajhg.2020.11.018

PMCID:: PMC7820726

Article PDF–4.1M

Select item 67152884.

Oculoauriculofrontonasal Syndrome (OAFNS) in a Nine-Month-Old Male

Holly A. Ishmael, Michael L. Begleiter, Elizabeth J. Regier, Merlin G. Butler

Am J Med Genet. Author manuscript; available in PMC 2019 Aug 29.

Published in final edited form as: Am J Med Genet. 2002 Jan 15; 107(2): 169–173. doi: 10.1002/ajmg.10120

PMCID:: PMC6715288

Article PDF–111K

Select item 65948985.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

Elizabeth J. Bhoj, Damien Haye, Annick Toutain, Dominique Bonneau, Irene Kibæk Nielsen, Ida Bay Lund, Pauline Bogaard, Stine Leenskjold, Kadri Karaer, Katherine T Wild, Katheryn L Grand, Mirena C. Astiazaran, Luis A. Gonzalez-Nieto, Ana Carvalho, Daphné Lehalle, Shivarajan M Amudhavalli, Elena Repnikova, Carol Saunders, Isabelle Thiffault, Irfan Saadi, Dong Li, Hakon Hakonarson, Yoann Vial, Elaine Zackai, Patrick Callier, Séverine Drunat, Alain Verloes

Eur J Med Genet. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Eur J Med Genet. 2019 Dec; 62(12): 103588. Published online 2018 Nov 22. doi: 10.1016/j.ejmg.2018.11.022

PMCID:: PMC6594898

Article PDF–506K

Select item 64661136.

Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition

José Martinho, Hugo Ferreira, Siri Paulo, Anabela Paula, Carlos-Miguel Marto, Eunice Carrilho, Manuel Marques-Ferreira

Int J Environ Res Public Health. 2019 Mar; 16(6): 928. Published online 2019 Mar 14. doi: 10.3390/ijerph16060928

PMCID:: PMC6466113

Article PDF–3.5M

Select item 44681937.

A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle

Bertram Brenig, Ekkehard Schütz, Michael Hardt, Petra Scheuermann, Markus Freick

PLoS One. 2015; 10(6): e0129208. Published online 2015 Jun 15. doi: 10.1371/journal.pone.0129208

Correction in:: PLoS One. 2024; 19(9): e0310790.

PMCID:: PMC4468193

Article PDF–5.4M

Select item 43267228.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han Brunner, Debora Bertola, Nicolas Chassaing, Albert David, Koen Devriendt, Pirayeh Eftekhari, Valérie Drouin-Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela Lin, Grazia Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, Gilles Morin, Marjan Nezarati, Malgorzata J M Nowaczyk, Jeanette C Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje Van Bon, Conny Van Ravenswaaij, Bruce Wainer, Andrew E Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean-Baptiste Rivière, William B Dobyns, Daniela T Pilz

Eur J Hum Genet. 2015 Mar; 23(3): 292–301. Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.95

PMCID:: PMC4326722

Article PDF–2.0M

Select item 42949429.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, Cassandre Labelle-Dumais, Kieran M Short, Ryan Chao, Mani Yahyavi, Emilia K Bijlsma, Catherine Chu, Stacey Musone, Ashleigh Wheatley, Pui-Yan Kwok, Sandra Marles, Jean-Pierre Fryns, A Murat Maga, Mohamed G Hassan, Douglas B Gould, Lohith Madireddy, Chumei Li, Timothy C Cox, Ian Smyth, Albert E Chudley, Martin Zenker

J Med Genet. Author manuscript; available in PMC 2015 Jan 15.

Published in final edited form as: J Med Genet. 2011 Jun; 48(6): 375–382. Published online 2011 Apr 20. doi: 10.1136/jmg.2011.089631

PMCID:: PMC4294942

Article PDF–1.3M

Select item 409614910.

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

M E P van den Elzen, S R F Twigg, J A C Goos, A J M Hoogeboom, A M W van den Ouweland, A O M Wilkie, I M J Mathijssen

Eur J Hum Genet. 2014 Aug; 22(8): 995–1001. Published online 2013 Nov 27. doi: 10.1038/ejhg.2013.273

PMCID:: PMC4096149

Article PDF–701K

Select item 358175411.

Novel FREM1 Mutations Expand the Phenotypic Spectrum Associated with Manitoba-Oculo-Tricho-Anal (MOTA) Syndrome and Bifid Nose Renal Agenesis Anorectal Malformations (BNAR) Syndrome

Jared Nathanson, Daniel T. Swarr, Amihood Singer, Mochi Liu, Amy Chinn, Wendy Jones, Jane Hurst, Nahla Khalek, Elaine Zackai, Anne Slavotinek

Am J Med Genet A. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Am J Med Genet A. 2013 Mar; 161(3): 473–478. Published online 2013 Feb 8. doi: 10.1002/ajmg.a.35736

PMCID:: PMC3581754

Article PDF–530K

Select item 310951012.

Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25

Deepika D’Cunha Burkardt, Jill A. Rosenfeld, Maria Helgeson, Brad Angle, Valerie Banks, Wendy Smith, Karen W. Gripp, Jessica Moline, Rocio Moran, Dmitriy M. Niyazov, Cathy Stevens, Elaine Zackai, Robert Roger Lebel, Douglas Ashley, Nancy Kramer, Ralph S. Lachman, John M. Graham, Jr.

Am J Med Genet A. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Am J Med Genet A. 2011 Jun; 155(6): 1336–1351. Published online 2011 May 5. doi: 10.1002/ajmg.a.34049

PMCID:: PMC3109510

Article PDF–4.1M

Select item 268107413.

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa M. Lees, Meenakshi Bhat, Peter Hammond, Raoul C.M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David Johnson, Alexis A. Robinson, Peter J. Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, Andrew O.M. Wilkie

Am J Hum Genet. 2009 May 15; 84(5): 698–705. doi: 10.1016/j.ajhg.2009.04.009

PMCID:: PMC2681074

Article PDF–1.1M

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