PMC Articles for MedGen (Select 462157) - PMC

Select item 104045041.

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

Bibi Hajra, Abdullah, Nousheen Bibi, Fibhaa Syed, Asmat Ullah, Wasim Ahmad, Umm-e-Kalsoom

An Bras Dermatol. 2023 Sep-Oct; 98(5): 580–586. Published online 2023 May 12. doi: 10.1016/j.abd.2022.07.009

PMCID:: PMC10404504

Abstract Article PDF–2.3M

Select item 81565112.

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review

Roberta Rotunno, Andrea Diociaiuti, Maria Lisa Dentici, Martina Rinelli, Michele Callea, Chiara Retrosi, Giovanna Zambruno, Emanuele Bellacchio, May El Hachem

Genes (Basel) 2021 May; 12(5): 748. Published online 2021 May 17. doi: 10.3390/genes12050748

PMCID:: PMC8156511

Abstract Article PDF–2.9M

Select item 105672093.

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family

Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul- Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur- Rehman, Zeeshan Anjum, Fazal- Ur- Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan

Genet Res (Camb) 2023; 2023: 9999660. Published online 2023 Oct 4. doi: 10.1155/2023/9999660

PMCID:: PMC10567209

Abstract Article PDF–1.3M

Select item 53818104.

Exploration of machine learning techniques in predicting multiple sclerosis disease course

Yijun Zhao, Brian C. Healy, Dalia Rotstein, Charles R. G. Guttmann, Rohit Bakshi, Howard L. Weiner, Carla E. Brodley, Tanuja Chitnis

PLoS One. 2017; 12(4): e0174866. Published online 2017 Apr 5. doi: 10.1371/journal.pone.0174866

PMCID:: PMC5381810

Abstract Article PDF–1.5M

Select item 29177165.

Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

Francesco Brancati, Paola Fortugno, Irene Bottillo, Marc Lopez, Emmanuelle Josselin, Omar Boudghene-Stambouli, Emanuele Agolini, Laura Bernardini, Emanuele Bellacchio, Miriam Iannicelli, Alfredo Rossi, Amina Dib-Lachachi, Liborio Stuppia, Giandomenico Palka, Stefan Mundlos, Sigmar Stricker, Uwe Kornak, Giovanna Zambruno, Bruno Dallapiccola

Am J Hum Genet. 2010 Aug 13; 87(2): 265–273. doi: 10.1016/j.ajhg.2010.07.003

PMCID:: PMC2917716

Abstract Article PDF–1.2M

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