PMC Articles for MedGen (Select 346503) - PMC

Select item 102866431.

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Marion Rolland, Christèle Dubourg, Auriane Cospain, Catherine Droitcourt, Laurent Pasquier

Pediatr Dermatol. 2022 May-Jun; 39(3): 434–437. Published online 2022 Mar 8. doi: 10.1111/pde.14969

PMCID:: PMC10286643

Abstract Article PDF–1.6M

Select item 99262232.

Antibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice

Chiara Peres, Caterina Sellitto, Chiara Nardin, Sabrina Putti, Tiziana Orsini, Chiara Di Pietro, Daniela Marazziti, Adriana Vitiello, Arianna Calistri, Mara Rigamonti, Ferdinando Scavizzi, Marcello Raspa, Francesco Zonta, Guang Yang, Thomas W. White, Fabio Mammano

eBioMedicine. 2023 Mar; 89: 104453. Published online 2023 Feb 1. doi: 10.1016/j.ebiom.2023.104453

PMCID:: PMC9926223

Abstract Article PDF–5.2M

Select item 83619733.

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Bradley Bowles, Alejandro Ferrer, Carla J. Nishimura, Filippo Pinto e Vairo, Tristan Rey, Bruno Leheup, Jennifer Sullivan, Kelly Schoch, Nicholas Stong, Emanuele Agolini, Dario Cocciadiferro, Abigail Williams, Alex Cummings, Sara Loddo, Silvia Genovese, Chelsea Roadhouse, Kirsty McWalter, Undiagnosed Diseases Network, Ingrid M. Wentzensen, Chumei Li, Dusica Babovic‐Vuksanovic, Brendan C. Lanpher, Maria Lisa Dentici, Arun Ankala, J. Austin Hamm, Bruno Dallapiccola, Francesca Clementina Radio, Vandana Shashi, Benedicte Gérard, Agnes Bloch‐Zupan, Richard J. Smith, Eric W. Klee

Am J Med Genet A. 2021 Aug; 185(8): 2417–2433. Published online 2021 May 27. doi: 10.1002/ajmg.a.62347

PMCID:: PMC8361973

Abstract Article PDF–4.8M

Select item 78207264.

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

Abstract Article PDF–4.1M

Select item 68961855.

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 64732306.

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes

Laura Cristina Gironi, Francesca Zottarelli, Gianfranco Savoldi, Lucia Dora Notarangelo, Maria Eleonora Basso, Ivana Ferrero, Fabio Timeus, Franca Fagioli, Luigi Maiuri, Enrico Colombo, Paola Savoia

Medicina (Kaunas) 2019 Mar; 55(3): 78. Published online 2019 Mar 25. doi: 10.3390/medicina55030078

PMCID:: PMC6473230

Abstract Article PDF–1010K

Select item 57025747.

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis

Maja Sukalo, Eva Schäflein, Ina Schanze, David B. Everman, Nima Rezaei, Jesús Argente, Isabel Lorda‐Sanchez, Charu Deshpande, Tsutomu Takahashi, Alexander Kleger, Martin Zenker

Mol Genet Genomic Med. 2017 Nov; 5(6): 774–780. Published online 2017 Jul 31. doi: 10.1002/mgg3.319

PMCID:: PMC5702574

Abstract Article PDF–1.2M

Select item 45434138.

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

Anna Kutkowska-Kaźmierczak, Katarzyna Niepokój, Katarzyna Wertheim-Tysarowska, Aleksandra Giza, Maria Mordasewicz-Goliszewska, Jerzy Bal, Ewa Obersztyn

J Appl Genet. 2015; 56(3): 329–337. Published online 2015 Jan 10. doi: 10.1007/s13353-014-0266-1

PMCID:: PMC4543413

Abstract Article PDF–576K

Select item 41608309.

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development

Ethan D. Sperry, Elizabeth A. Hurd, Mark A. Durham, Elyse N. Reamer, Adam B. Stein, Donna M. Martin

Dev Dyn. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Dev Dyn. 2014 Sep; 243(9): 1055–1066. Published online 2014 Jul 10. doi: 10.1002/dvdy.24156

PMCID:: PMC4160830

Abstract Article PDF–1.1M

Select item 365665910.

Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome

Curtis K. Deutsch, Tania Hreczko, Lewis B. Holmes

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2014 Mar 6.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2013 Mar; 97(3): 10.1002/bdra.23121. Published online 2013 Mar 6. doi: 10.1002/bdra.23121

PMCID:: PMC3656659

Abstract Article PDF–115K

Select item 364558011.

Role of p63 and the Notch pathway in cochlea development and sensorineural deafness

Alessandro Terrinoni, Valeria Serra, Ernesto Bruno, Andreas Strasser, Elizabeth Valente, Elsa R. Flores, Hans van Bokhoven, Xin Lu, Richard A. Knight, Gerry Melino

Proc Natl Acad Sci U S A. 2013 Apr 30; 110(18): 7300–7305. Published online 2013 Apr 15. doi: 10.1073/pnas.1214498110

Correction in:: Proc Natl Acad Sci U S A. 2014 Feb 18; 111(7): 2854.

PMCID:: PMC3645580

Abstract Article PDF–1.0M

Select item 332221812.

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Bobby G. Ng, Karl Hackmann, Melanie A. Jones, Alexey M. Eroshkin, Ping He, Roy Wiliams, Shruti Bhide, Vincent Cantagrel, Joseph G. Gleeson, Amy S. Paller, Rhonda E. Schnur, Sigrid Tinschert, Janice Zunich, Madhuri R. Hegde, Hudson H. Freeze

Am J Hum Genet. 2012 Apr 6; 90(4): 685–688. doi: 10.1016/j.ajhg.2012.02.010

PMCID:: PMC3322218

Abstract Article PDF–215K

Select item 320837213.

Johanson-Blizzard syndrome

Nabeel Almashraki, Mukarram Zainuddin Abdulnabee, Maja Sukalo, Abdullah Alrajoudi, Iman Sharafadeen, Martin Zenker

World J Gastroenterol. 2011 Oct 7; 17(37): 4247–4250. Published online 2011 Oct 7. doi: 10.3748/wjg.v17.i37.4247

PMCID:: PMC3208372

Abstract Article PDF–962K

Select item 317231114.

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, Marie-Claude Addor, Han Brunner, Antonio Perez Aytes, Julia Mayerle, Hyun Kyu Song, Alexander Varshavsky, Martin Zenker

PLoS One. 2011; 6(9): e24925. Published online 2011 Sep 13. doi: 10.1371/journal.pone.0024925

PMCID:: PMC3172311

Abstract Article PDF–773K

Select item 305306615.

DEVELOPMENT AND CHARACTERIZATION OF A MOUSE WITH PROFOUND BIOTINIDASE DEFICIENCY: A BIOTIN-RESPONSIVE NEUROCUTANEOUS DISORDER

Kirit Pindolia, Megan Jordan, Caiying Guo, Nell Matthews, Donald M. Mock, Erin Strovel, Miriam Blitzer, Barry Wolf

Mol Genet Metab. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Mol Genet Metab. 2011 Feb; 102(2): 161–169. Published online 2010 Oct 13. doi: 10.1016/j.ymgme.2010.10.005

PMCID:: PMC3053066

Abstract Article PDF–1.2M

Select item 104875316.

Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism.

A R Rushton, M Genel

J Med Genet. 1981 Oct; 18(5): 335–339. doi: 10.1136/jmg.18.5.335

PMCID:: PMC1048753

Summary Page Browse PDF–1.0M

Select item 44760917.

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

Gabriele Richard, Fatima Rouan, Colin E. Willoughby, Nkecha Brown, Pil Chung, Markku Ryynänen, Ethylin Wang Jabs, Sherri J. Bale, John J. DiGiovanna, Jouni Uitto, Laura Russell

Am J Hum Genet. 2002 May; 70(5): 1341–1348. Published online 2002 Mar 22. doi: 10.1086/339986

PMCID:: PMC447609

Abstract Article PDF–834K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 17

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity