PMC Articles for MedGen (Select 104498) - PMC

Michal Gafner, Marina Michelson, Emanuela Argilli, Keren Yosovich, Elliott H. Sherr, Kendall C. Parks, Eleina M. England, Ronen Hady-Cohen, Zvi Leibovitz, Dorit Lev, Yael Michaeli-Yosef, Tally Lerman-Sagie, Lubov Blumkin

J Hum Genet. Author manuscript; available in PMC 2023 Jun 9.

Published in final edited form as: J Hum Genet. 2022 Feb; 67(2): 95–101. Published online 2021 Aug 16. doi: 10.1038/s10038-021-00971-5

PMCID:: PMC10256137

Article PDF–711K

Select item 98590895.

Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature

Tingying Lei, Li Zhen, Xin Yang, Min Pan, Fang Fu, Jin Han, Lushan Li, Dongzhi Li, Can Liao

Genes (Basel) 2023 Jan; 14(1): 126. Published online 2023 Jan 2. doi: 10.3390/genes14010126

PMCID:: PMC9859089

Article PDF–2.7M

Select item 92150496.

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

Sinziana Stanescu, Irene Bravo-Alonso, Amaya Belanger-Quintana, Belen Pérez, Montserrat Medina-Diaz, Pedro Ruiz-Sala, Nathaly Paola Flores, Raquel Buenache, Francisco Arrieta, Pilar Rodríguez-Pombo

Orphanet J Rare Dis. 2022; 17: 243. Published online 2022 Jun 21. doi: 10.1186/s13023-022-02389-4

PMCID:: PMC9215049

Article PDF–1.4M

Select item 86703147.

Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI

Romina Romaniello, Filippo Arrigoni, Patrizia De Salvo, Maria Clara Bonaglia, Elena Panzeri, Maria Teresa Bassi, Cecilia Parazzini, Andrea Righini, Renato Borgatti

Ann Clin Transl Neurol. 2021 Dec; 8(12): 2280–2288. Published online 2021 Dec 1. doi: 10.1002/acn3.51484

PMCID:: PMC8670314

Article PDF–2.3M

Select item 83736488.

Shruti Pande, Periyasamy Radhakrishnan, Naveenchandra M Shetty, Anju Shukla, Katta Mohan Girisha

Am J Med Genet A. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Am J Med Genet A. 2021 Sep; 185(9): 2756–2765. Published online 2021 Mar 22. doi: 10.1002/ajmg.a.62186

PMCID:: PMC8373648

Article PDF–663K

Select item 81661779.

Chromatin remodeler Arid1a regulates subplate neuron identity and wiring of cortical connectivity

Daniel Z. Doyle, Mandy M. Lam, Adel Qalieh, Yaman Qalieh, Alice Sorel, Owen H. Funk, Kenneth Y. Kwan

Proc Natl Acad Sci U S A. 2021 May 25; 118(21): e2100686118. Published online 2021 May 19. doi: 10.1073/pnas.2100686118

PMCID:: PMC8166177

Article PDF–4.9M

Select item 807213210.

Molecular Profiling Reveals Involvement of ESCO2 in Intermediate Progenitor Cell Maintenance in the Developing Mouse Cortex

Pauline Antonie Ulmke, M. Sadman Sakib, Peter Ditte, Godwin Sokpor, Cemil Kerimoglu, Linh Pham, Yuanbin Xie, Xiaoyi Mao, Joachim Rosenbusch, Ulrike Teichmann, Huu Phuc Nguyen, Andre Fischer, Gregor Eichele, Jochen F. Staiger, Tran Tuoc

Stem Cell Reports. 2021 Apr 13; 16(4): 968–984. Published online 2021 Apr 1. doi: 10.1016/j.stemcr.2021.03.008

PMCID:: PMC8072132

Article PDF–8.1M

Select item 681752511.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

Andrea Accogli, Sara Calabretta, Judith St-Onge, Nassima Boudrahem-Addour, Alexandre Dionne-Laporte, Pascal Joset, Silvia Azzarello-Burri, Anita Rauch, Joel Krier, Elizabeth Fieg, Juan C. Pallais, Undiagnosed Diseases Network, Allyn McConkie-Rosell, Marie McDonald, Sharon F. Freedman, Jean-Baptiste Rivière, Joël Lafond-Lapalme, Brittany N. Simpson, Robert J. Hopkin, Aurélien Trimouille, Julien Van-Gils, Amber Begtrup, Kirsty McWalter, Heron Delphine, Boris Keren, David Genevieve, Emanuela Argilli, Elliott H. Sherr, Mariasavina Severino, Guy A. Rouleau, Patricia T. Yam, Frédéric Charron, Myriam Srour

Am J Hum Genet. 2019 Oct 3; 105(4): 854–868. Published online 2019 Oct 3. doi: 10.1016/j.ajhg.2019.09.005

PMCID:: PMC6817525

Article PDF–1.6M

Select item 663317112.

Draxin Inhibits Axonal Outgrowth through the Netrin Receptor DCC

Giasuddin Ahmed, Yohei Shinmyo, Kunimasa Ohta, Shahidul M. Islam, Mahmud Hossain, Iftekhar Bin Naser, M. Asrafuzzaman Riyadh, Yuhong Su, Sanbing Zhang, Marc Tessier-Lavigne, Hideaki Tanaka

J Neurosci. 2011 Sep 28; 31(39): 14018–14023. doi: 10.1523/JNEUROSCI.0943-11.2011

PMCID:: PMC6633171

Article PDF–1.7M

Select item 650679313.

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

Nynke Oosterhof, Irene J. Chang, Ehsan Ghayoor Karimiani, Laura E. Kuil, Dana M. Jensen, Ray Daza, Erica Young, Lee Astle, Herma C. van der Linde, Giridhar M. Shivaram, Jeroen Demmers, Caitlin S. Latimer, C. Dirk Keene, Emily Loter, Reza Maroofian, Tjakko J. van Ham, Robert F. Hevner, James T. Bennett

Am J Hum Genet. 2019 May 2; 104(5): 936–947. Published online 2019 Apr 11. doi: 10.1016/j.ajhg.2019.03.010

PMCID:: PMC6506793

Article PDF–3.5M

Select item 646063714.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Muriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, Joris Andrieux, Florence Petit, Anna Sowinska-Seidler, Magdalena Socha, Anna Jakubiuk-Tomaszuk, Marion Gerard, Michèle Mathieu-Dramard, Valérie Cormier-Daire, Alain Verloes, Annick Toutain, Ghislaine Plessis, Philippe Jonveaux, Clarisse Baumann, Albert David, Chantal Farra, Estelle Colin, Sébastien Jacquemont, Annick Rossi, Sahar Mansour, Neeti Ghali, Anne Moncla, Nayana Lahiri, Jane Hurst, Elena Pollina, Christine Patch, Joo Wook Ahn, Anne-Sylvie Valat, Aurélie Mezel, Philippe Bourgeot, David Zhang, Sylvie Manouvrier-Hanu

Eur J Hum Genet. 2019 Apr; 27(4): 525–534. Published online 2019 Jan 8. doi: 10.1038/s41431-018-0326-9

PMCID:: PMC6460637

Article PDF–1.2M

Select item 619057615.

A homozygous deleterious mutation in CDK10 is associated with agenesis of corpus callosum, retinopathy and deafness.

Vincent J. Guen, Simon Edvardson, Nitay D. Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A. Lees, Pierre Colas, Orly Elpeleg

Am J Med Genet A. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Am J Med Genet A. 2018 Jan; 176(1): 92–98. Published online 2017 Nov 12. doi: 10.1002/ajmg.a.38506

PMCID:: PMC6190576

Article PDF–834K

Select item 570998716.

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao, Xuelian He

BMC Med Genet. 2017; 18: 141. Published online 2017 Dec 1. doi: 10.1186/s12881-017-0501-9

PMCID:: PMC5709987

Article PDF–708K

Select item 492987517.

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

Loubna Jouan, Bouchra Ouled Amar Bencheikh, Hussein Daoud, Alexandre Dionne-Laporte, Sylvia Dobrzeniecka, Dan Spiegelman, Daniel Rochefort, Pascale Hince, Anna Szuto, Maryse Lassonde, Marine Barbelanne, William Y Tsang, Patrick A Dion, Hugo Théoret, Guy A Rouleau

Eur J Hum Genet. 2016 Apr; 24(4): 607–610. Published online 2015 Jul 22. doi: 10.1038/ejhg.2015.156

PMCID:: PMC4929875

Article PDF–671K

Select item 479519218.

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

Dina Fine, Hagit Flusser, Barak Markus, Zamir Shorer, Libe Gradstein, Shareef Khateeb, Yshia Langer, Ginat Narkis, Ruth Birk, Aharon Galil, Ilan Shelef, Ohad S Birk

Eur J Hum Genet. 2015 Dec; 23(12): 1729–1734. Published online 2014 Nov 12. doi: 10.1038/ejhg.2014.241

PMCID:: PMC4795192

Article PDF–1.4M

Select item 458777719.

Mutation in WDR4 impairs tRNA m⁷G₄₆ methylation and causes a distinct form of microcephalic primordial dwarfism

Ranad Shaheen, Ghada M H Abdel-Salam, Michael P. Guy, Rana Alomar, Mohamed S. Abdel-Hamid, Hanan H. Afifi, Samira I. Ismail, Bayoumi A. Emam, Eric M. Phizicky, Fowzan S. Alkuraya

Genome Biol. 2015; 16: 210. Published online 2015 Sep 28. doi: 10.1186/s13059-015-0779-x

PMCID:: PMC4587777

Article PDF–1.6M

Select item 440319920.

Dido mutations trigger perinatal death and generate brain abnormalities and behavioral alterations in surviving adult mice

Ricardo Villares, Julio Gutiérrez, Agnes Fütterer, Varvara Trachana, Fernando Gutiérrez del Burgo, Carlos Martínez-A

Proc Natl Acad Sci U S A. 2015 Apr 14; 112(15): 4803–4808. Published online 2015 Mar 30. doi: 10.1073/pnas.1419300112

PMCID:: PMC4403199

Article PDF–1.2M

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