PMC Articles for MedGen (Select 82671) - PMC

Rafael Fabiano Machado Rosa, Willy Francisco Bartel D'Ecclesiis, Raquel Papandreus Dibbi, Rosana Cardoso Manique Rosa, Patrícia Trevisan, Carla Graziadio, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen

Sao Paulo Med J. 2014; 132(6): 332–338. Published online 2014 Sep 2. doi: 10.1590/1516-3180-2014-1326729

PMCID:: PMC10496778

Abstract Article PDF–197K

Select item 99570434.

Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 (SLCO2A1) Gene Underlies Isolated Nail Clubbing

Muhammad Umair, Muhammad Bilal, Khadim Shah, Gulab Said, Farooq Ahmad

Genes (Basel) 2023 Feb; 14(2): 430. Published online 2023 Feb 8. doi: 10.3390/genes14020430

PMCID:: PMC9957043

Abstract Article PDF–1.5M

Select item 96905875.

Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias

Sigrun Maier-Wohlfart, Carmen Aicher, Ines Willershausen, Nicolai Peschel, Udo Meißner, Lina Gölz, Holm Schneider

Genes (Basel) 2022 Nov; 13(11): 2119. Published online 2022 Nov 15. doi: 10.3390/genes13112119

PMCID:: PMC9690587

Abstract Article PDF–1.8M

Select item 96627386.

Witch Nails (Krt90^whnl): A spontaneous mouse mutation affecting nail growth and development

John P. Sundberg, Hannah Galantino-Homer, Heather Fairfield, Patricia F. Ward-Bailey, Belinda S. Harris, Melissa Berry, C. Herbert Pratt, Nicholas E. Gott, Lesley S. Bechtold, Pauline R. Kaplan, Blythe P. Durbin-Johnson, David M. Rocke, Robert H. Rice

PLoS One. 2022; 17(11): e0277284. Published online 2022 Nov 14. doi: 10.1371/journal.pone.0277284

PMCID:: PMC9662738

Abstract Article PDF–4.4M

Select item 96265417.

Mine Koprulu, Muhammad Naeem, Gökhan Nalbant, Rana M. Kamran Shabbir, Tariq Mahmood, Zele Huma, Sajid Malik, Aslıhan Tolun

Eur J Hum Genet. 2022 Nov; 30(11): 1292–1296. Published online 2022 Jun 9. doi: 10.1038/s41431-022-01128-4

PMCID:: PMC9626541

Abstract Article PDF–881K

Select item 94787148.

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

Yaqing Zhou, Yan Quan, Yijun Wu, Yinxing Zhang

J Int Med Res. 2022 Sep; 50(9): 03000605221121955. Published online 2022 Sep 13. doi: 10.1177/03000605221121955

PMCID:: PMC9478714

Abstract Article PDF–515K

Select item 93633909.

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis

Giulia Napoli, Noemi Panzironi, Alice Traversa, Caterina Catalanotto, Valentina Pace, Francesco Petrizzelli, Agnese Giovannetti, Sara Lazzari, Carlo Cogoni, Marco Tartaglia, Massimo Carella, Tommaso Mazza, Antonio Pizzuti, Chiara Parisi, Viviana Caputo

Mol Neurobiol. 2022; 59(8): 4825–4838. Published online 2022 May 31. doi: 10.1007/s12035-022-02886-4

PMCID:: PMC9363390

Abstract Article PDF–3.6M

Select item 911386810.

Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma

Ying Xiong, Ting Chen, Jia Yu, He Zhou, Baozhen Lu, Lijie Chen, Liwei Sun, Can Wang, Sujun Li, Bo Wu

Dis Markers. 2022; 2022: 7840710. Published online 2022 May 10. doi: 10.1155/2022/7840710

Retraction in:: Dis Markers. 2023; 2023: 9813418.

PMCID:: PMC9113868

Abstract Article

Select item 895347111.

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

Michele Callea, Diego Martinelli, Francisco Cammarata-Scalisi, Chiara Grimaldi, Houweyda Jilani, Piercesare Grimaldi, Colin Eric Willoughby, Antonino Morabito

Genes (Basel) 2022 Mar; 13(3): 496. Published online 2022 Mar 11. doi: 10.3390/genes13030496

PMCID:: PMC8953471

Abstract Article PDF–290K

Select item 873448412.

Le syndrome des ongles jaunes : un désordre génétique ?

Narjes Abid, Manel Loukil, Nour Mahmoud, Imen Badri, Khaled Bouzaidi, Hedia Ghrairi

Tunis Med. 2021 Apr; 99(4): 475–477. French. Publication en ligne 2021 avr. 1.

PMCID:: PMC8734484

Abstract Article PDF–437K

Select item 849749413.

Monitoring of compound resting membrane potentials of cell cultures with ratiometric genetically encoded voltage indicators

Philipp Rühl, Johanna M. Langner, Jasmin Reidel, Roland Schönherr, Toshinori Hoshi, Stefan H. Heinemann

Commun Biol. 2021; 4: 1164. Published online 2021 Oct 7. doi: 10.1038/s42003-021-02675-0

PMCID:: PMC8497494

Abstract Article PDF–3.1M

Select item 844061014.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K⁺ channelopathies

Karen W. Gripp, Sarah F. Smithson, Ingrid J. Scurr, Julia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heather McLaughlin, Lisette Leeuwen, Marleen E. H. Simon, Ellen van Binsbergen, Mary Beth P. Dinulos, Julie D. Kaplan, Anne McRae, Andrea Superti-Furga, Jean-Marc Good, Kerstin Kutsche

Eur J Hum Genet. 2021 Sep; 29(9): 1384–1395. Published online 2021 Feb 16. doi: 10.1038/s41431-021-00818-9

PMCID:: PMC8440610

Abstract Article PDF–1.8M

Select item 832501715.

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms

Rexxi Prasasya, Kristen V Grotheer, Linda D Siracusa, Marisa S Bartolomei

Hum Mol Genet. 2020 Sep 15; 29(R1): R107–R116. Published online 2020 Jun 27. doi: 10.1093/hmg/ddaa133

PMCID:: PMC8325017

Abstract Article PDF–656K

Select item 824551416.

SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome

Federica Banfi, Alicia Rubio, Mattia Zaghi, Luca Massimino, Giulia Fagnocchi, Edoardo Bellini, Mirko Luoni, Cinzia Cancellieri, Anna Bagliani, Chiara Di Resta, Camilla Maffezzini, Angelo Ianielli, Maurizio Ferrari, Rocco Piazza, Luca Mologni, Vania Broccoli, Alessandro Sessa

Nat Commun. 2021; 12: 4050. Published online 2021 Jun 30. doi: 10.1038/s41467-021-24391-3

PMCID:: PMC8245514

Abstract Article PDF–6.5M

Select item 815772817.

ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance

Masayo Kagami, Kaori Hara-Isono, Keiko Matsubara, Kazuhiko Nakabayashi, Satoshi Narumi, Maki Fukami, Yumiko Ohkubo, Hirotomo Saitsu, Shuji Takada, Tsutomu Ogata

Clin Epigenetics. 2021; 13: 119. Published online 2021 May 26. doi: 10.1186/s13148-021-01106-5

PMCID:: PMC8157728

Abstract Article PDF–3.5M

Select item 814685718.

Identification of a Homozygous PEX26 Mutation in a Heimler Syndrome Patient

Youn Jung Kim, Yuichi Abe, Young-Jae Kim, Yukio Fujiki, Jung-Wook Kim

Genes (Basel) 2021 May; 12(5): 646. Published online 2021 Apr 26. doi: 10.3390/genes12050646

PMCID:: PMC8146857

Abstract Article PDF–2.4M

Select item 812705219.

Further phenotypic features and two novel POC1A variants in a patient with SOFT syndrome: A case report

Songting Li, Yan Zhong, Yongjia Yang, Siping He, Wenjuan He

Mol Med Rep. 2021 Jul; 24(1): 494. Published online 2021 May 5. doi: 10.3892/mmr.2021.12133

PMCID:: PMC8127052

Abstract Article PDF–1.8M

Select item 811794220.

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

Malena Daich Varela, Priyam Jani, Wadih M. Zein, Precilla D'Souza, Lynne Wolfe, Jennifer Chisholm, Christopher Zalewski, David Adams, Blake M. Warner, Laryssa A. Huryn, Robert B. Hufnagel

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2020 Sep; 184(3): 618–630. Published online 2020 Aug 31. doi: 10.1002/ajmg.c.31823

PMCID:: PMC8117942

Abstract Article PDF–1.3M

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