PMC Articles for MedGen (Select 1840991) - PMC

Select item 109385171.

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

Ruken Yıldırım, Edip Ünal, Şervan Özalkak, Akçahan Akalın, Ayça Aykut, Nevzat Yılmaz

J Clin Res Pediatr Endocrinol. 2024 Mar; 16(1): 76–83. Published online 2024 Mar 11. doi: 10.4274/jcrpe.galenos.2023.2023-5-16

PMCID:: PMC10938517

Abstract Article PDF–503K

Select item 80455182.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, Fábio Tadeu Arrojo Martins, Shahar Taiber, Ofer Isakov, Ming K. Lee, Mor Bordeynik-Cohen, Maria Birkan, Weise Chang, Silvia Casadei, Nada Danial-Farran, Amal Abu-Rayyan, Ryan Carlson, Lara Kamal, Ásgeir Örn Arnþórsson, Meirav Sokolov, Dror Gilony, Noga Lipschitz, Moshe Frydman, Bella Davidov, Michal Macarov, Michal Sagi, Chana Vinkler, Hana Poran, Reuven Sharony, Nadra Samara, Na’ama Zvi, Hagit Baris-Feldman, Amihood Singer, Ophir Handzel, Ronna Hertzano, Doaa Ali-Naffaa, Noa Ruhrman-Shahar, Ory Madgar, Efrat Sofrin, Amir Peleg, Morad Khayat, Mordechai Shohat, Lina Basel-Salmon, Elon Pras, Dorit Lev, Michael Wolf, Eirikur Steingrimsson, Noam Shomron, Matthew W. Kelley, Moien Kanaan, Stavit Allon-Shalev, Mary-Claire King, Karen B. Avraham

Clin Genet. Author manuscript; available in PMC 2021 Apr 14.

Published in final edited form as: Clin Genet. 2020 Oct; 98(4): 353–364. Published online 2020 Aug 24. doi: 10.1111/cge.13817

PMCID:: PMC8045518

Abstract Article PDF–860K

Select item 48335843.

Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9)

Barbara J. Burgess, Jennifer T. O’Malley, Takefumi Kamakura, Kris Kristiansen, Nahid G. Robertson, Cynthia C. Morton, Joseph B. Nadol, Jr.

Audiol Neurootol. Author manuscript; available in PMC 2017 Mar 30.

Published in final edited form as: Audiol Neurootol. 2016; 21(2): 88–97. Published online 2016 Mar 30. doi: 10.1159/000443822

PMCID:: PMC4833584

Abstract Article PDF–5.2M

Select item 38759964.

Vohwinkel syndrome, ichthyosiform variant - by Camisa - Case report

Liliam Dalla Corte, Mariana Vale Scribel da Silva, Carina Flores de Oliveira, Gerson Vetoratto, Raquel Bissacotti Steglich, Josiane Borges

An Bras Dermatol. 2013 Nov-Dec; 88(6 Suppl 1): 206–208. doi: 10.1590/abd1806-4841.20132135

PMCID:: PMC3875996

Abstract Article PDF–268K

Select item 28206835.

Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

Piero Pavone, Martino Ruggieri, Ilaria Lombardo, Jyotsna Sudi, Roberta Biancheri, Danilo Castellano-Chiodo, Andrea Rossi, Gemma Incorpora, Norma J. Nowak, Susan L. Christian, Lorenzo Pavone, William B. Dobyns

Eur J Pediatr. 2010; 169(4): 475–481. Published online 2009 Oct 17. doi: 10.1007/s00431-009-1061-6

PMCID:: PMC2820683

Abstract Article PDF–203K

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