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Select item 66376061.

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė

BMC Med Genet. 2019; 20: 127. Published online 2019 Jul 17. doi: 10.1186/s12881-019-0859-y

PMCID:: PMC6637606

Abstract Article PDF–775K

Select item 65436842.

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants

Xiang Chen, Kai Yan, Yanyan Gao, Huijun Wang, Guoqiang Chen, Bingbing Wu, Qian Qin, Lin Yang, Wenhao Zhou

BMC Med Genet. 2019; 20: 93. Published online 2019 May 30. doi: 10.1186/s12881-019-0813-z

PMCID:: PMC6543684

Abstract Article PDF–863K

Select item 29664643.

Cloning and characterization of a novel alternatively spliced transcript of the human CHD7 putative helicase

Christian Colin, Flávia S Tobaruella, Ricardo G Correa, Mari C Sogayar, Marcos A Demasi

BMC Res Notes. 2010; 3: 252. Published online 2010 Oct 6. doi: 10.1186/1756-0500-3-252

PMCID:: PMC2966464

Abstract Article PDF–524K

Select item 69489494.

Gli3 Regulates Vomeronasal Neurogenesis, Olfactory Ensheathing Cell Formation, and GnRH-1 Neuronal Migration

Ed Zandro M. Taroc, Ankana S. Naik, Jennifer M. Lin, Nicolas B. Peterson, David L. Keefe, Jr., Elizabet Genis, Gabriele Fuchs, Ravikumar Balasubramanian, Paolo E. Forni

J Neurosci. 2020 Jan 8; 40(2): 311–326. doi: 10.1523/JNEUROSCI.1977-19.2019

PMCID:: PMC6948949

Abstract Article PDF–11M

Select item 67001795.

Comprehensive analysis of syndromic hearing loss patients in Japan

Michie Ideura, Shin-ya Nishio, Hideaki Moteki, Yutaka Takumi, Maiko Miyagawa, Teruyuki Sato, Yumiko Kobayashi, Kenji Ohyama, Kiyoshi Oda, Takamichi Matsui, Tsukasa Ito, Hiroshi Suzumura, Kyoko Nagai, Shuji Izumi, Nobuhiro Nishiyama, Manabu Komori, Kozo Kumakawa, Hidehiko Takeda, Yoko Kishimoto, Satoshi Iwasaki, Sakiko Furutate, Kotaro Ishikawa, Masato Fujioka, Hiroshi Nakanishi, Jun Nakayama, Rie Horie, Yumi Ohta, Yasushi Naito, Mariko Kakudo, Hirofumi Sakaguchi, Yuko Kataoka, Kazuma Sugahara, Naohito Hato, Takashi Nakagawa, Nana Tsuchihashi, Yukihiko Kanda, Chiharu Kihara, Tetsuya Tono, Ikuyo Miyanohara, Akira Ganaha, Shin-ichi Usami

Sci Rep. 2019; 9: 11976. Published online 2019 Aug 19. doi: 10.1038/s41598-019-47141-4

PMCID:: PMC6700179

Abstract Article PDF–1017K

Select item 65943036.

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History

Andrew A Dwyer, Niraj R Chavan, Hilana Lewkowitz-Shpuntoff, Lacey Plummer, Frances J Hayes, Stephanie B Seminara, William F Crowley, Jr., Nelly Pitteloud, Ravikumar Balasubramanian

J Clin Endocrinol Metab. 2019 Aug; 104(8): 3403–3414. Published online 2019 Mar 11. doi: 10.1210/jc.2018-02697

PMCID:: PMC6594303

Abstract Article

Select item 65655467.

Clinical utility in infants with suspected monogenic conditions through next‐generation sequencing

Sha Hong, Li Wang, Dongying Zhao, Yonghong Zhang, Yan Chen, Jintong Tan, Lili Liang, Tianwen Zhu

Mol Genet Genomic Med. 2019 Jun; 7(6): e684. Published online 2019 Apr 9. doi: 10.1002/mgg3.684

PMCID:: PMC6565546

Abstract Article PDF–931K

Select item 65175588.

Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients

Péter Balicza, Noémi Ágnes Varga, Bence Bolgár, Klára Pentelényi, Renáta Bencsik, Anikó Gál, András Gézsi, Csilla Prekop, Viktor Molnár, Mária Judit Molnár

Front Genet. 2019; 10: 434. Published online 2019 May 8. doi: 10.3389/fgene.2019.00434

PMCID:: PMC6517558

Abstract Article PDF–3.0M

Select item 64462539.

De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome

Laura Pranckėnienė, Eglė Preikšaitienė, Lucie Gueneau, Alexandre Reymond, Vaidutis Kučinskas

Genomics Insights. 2019; 12: 1178631019839010. Published online 2019 Apr 2. doi: 10.1177/1178631019839010

PMCID:: PMC6446253

Abstract Article PDF–624K

Select item 603499510.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Amanda Moccia, Anshika Srivastava, Jennifer M. Skidmore, John A. Bernat, Marsha Wheeler, University of Washington Center for Mendelian Genomics, Jessica X.Chong, Deborah Nickerson, Michael Bamshad, Margaret A. Hefner, Donna M. Martin, Stephanie L. Bielas

Genet Med. Author manuscript; available in PMC 2018 Jul 6.

Published in final edited form as: Genet Med. 2018 Sep; 20(9): 1022–1029. Published online 2018 Jan 4. doi: 10.1038/gim.2017.233

PMCID:: PMC6034995

Abstract Article PDF–432K

Select item 594785211.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study

Sneh Lata, Maddalena Marasa, Yifu Li, David A. Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky, Jordan Nestor, Lindsey M. Slater, Vivette D’Agati, Marcin Zaniew, Anna Materna-Kiryluk, Francesca Lugani, Gianluca Caridi, Luca Rampoldi, Aditya Mattoo, Chad A. Newton, Maya K. Rao, Jai Radhakrishan, Wooin Ahn, Pietro A. Canetta, Andrew S. Bomback, Gerald B. Appel, Corinne Antignac, Glen S. Markowitz, Christine K. Garcia, Krzysztof Kiryluk, Simone Sanna-Cherchi, Ali G. Gharavi

Ann Intern Med. Author manuscript; available in PMC 2018 Jul 16.

Published in final edited form as: Ann Intern Med. 2018 Jan 16; 168(2): 100–109. Published online 2017 Dec 5. doi: 10.7326/M17-1319

Correction in:: Ann Intern Med. 2018 Feb 20; 168(4): 308.

PMCID:: PMC5947852

Abstract Article PDF–364K

Select item 584214912.

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome

Yuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, Atsushi Hattori, Akie Nakamura, Kohji Okamura, Kumiko Yanagi, Manami Iso, Tadashi Kaname, Yoichi Matsubara, Maki Fukami

Hum Genome Var. 2018; 5: 18006. Published online 2018 Mar 8. doi: 10.1038/hgv.2018.6

PMCID:: PMC5842149

Abstract Article PDF–765K

Select item 576263613.

Differentiation potential of Pluripotent Stem Cells correlates to the level of CHD7

Takako Yamamoto, Chiemi Takenaka, Yusuke Yoda, Yasuhiro Oshima, Kenichi Kagawa, Hiroshi Miyajima, Tetsuji Sasaki, Shin Kawamata

Sci Rep. 2018; 8: 241. Published online 2018 Jan 10. doi: 10.1038/s41598-017-18439-y

PMCID:: PMC5762636

Abstract Article PDF–2.2M

Select item 531467614.

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

Katie L. Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A. van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H. Sinclair, Sultana M. H. Faradz

Hum Genomics. 2017; 11: 1. Published online 2017 Feb 16. doi: 10.1186/s40246-017-0098-2

PMCID:: PMC5314676

Abstract Article PDF–977K

Select item 467857315.

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

Eileen C. P. Lim, Maggie Brett, Angeline H. M. Lai, Siew-Peng Lee, Ee-Shien Tan, Saumya S. Jamuar, Ivy S. L. Ng, Ene-Choo Tan

Hum Genomics. 2015; 9: 33. Published online 2015 Dec 14. doi: 10.1186/s40246-015-0055-x

PMCID:: PMC4678573

Abstract Article PDF–944K

Select item 429303716.

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

Julie Hoover-Fong, William J. Savage, Emily Lisi, Jerry Winkelstein, George H. Thomas, Lies H. Hoefsloot, David M. Loeb

J Pediatr. Author manuscript; available in PMC 2015 Jan 13.

Published in final edited form as: J Pediatr. 2009 Jan; 154(1): 140–142. doi: 10.1016/j.jpeds.2008.07.049

PMCID:: PMC4293037

Abstract Article PDF–362K

Select item 391844617.

Colorectal Carcinomas With CpG Island Methylator Phenotype 1 Frequently Contain Mutations in Chromatin Regulators

Tomomitsu Tahara, Eiichiro Yamamoto, Priyanka Madireddi, Hiromu Suzuki, Reo Maruyama, Woonbok Chung, Judith Garriga, Jaroslav Jelinek, Hiro-o Yamano, Tamotsu Sugai, Yutaka Kondo, Minoru Toyota, Jean-Pierre J. Issa, Marcos R. H. Estécio

Gastroenterology. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Gastroenterology. 2014 Feb; 146(2): 530–538.e5. Published online 2013 Nov 6. doi: 10.1053/j.gastro.2013.10.060

PMCID:: PMC3918446

Abstract Article PDF–1.5M

Select item 377466718.

Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder

Eriko Koshimizu, Satoko Miyatake, Nobuhiko Okamoto, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto

PLoS One. 2013; 8(9): e74167. Published online 2013 Sep 16. doi: 10.1371/journal.pone.0074167

PMCID:: PMC3774667

Abstract Article PDF–173K

Select item 370803319.

Structural Pituitary Abnormalities Associated With CHARGE Syndrome

Louise C. Gregory, Evelien F. Gevers, Joanne Baker, Tessa Kasia, Kling Chong, Dragana J. Josifova, Maria Caimari, Frederic Bilan, Mark J. McCabe, Mehul T. Dattani

J Clin Endocrinol Metab. 2013 Apr; 98(4): E737–E743. doi: 10.1210/jc.2012-3467

PMCID:: PMC3708033

Abstract Article

Select item 351109720.

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders

Karim Bouazoune, Robert E. Kingston

Proc Natl Acad Sci U S A. 2012 Nov 20; 109(47): 19238–19243. Published online 2012 Nov 7. doi: 10.1073/pnas.1213825109

PMCID:: PMC3511097

Abstract Article PDF–772K

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PMC Links for Nucleotide (Select 1519245546) (31)
PMC
Mus musculus 16 days embryo head cDNA, RIKEN full-length enriched library, clone...
Mus musculus 16 days embryo head cDNA, RIKEN full-length enriched library, clone:C130057O06 product:ribosomal protein S2, full insert sequence
gi|74202872|dbj|AK163821.1|

Nucleotide
S Stenger (1)
GEO DataSets
SARS-CoV-2 infection of human pancreatic islets
SARS-CoV-2 infection of human pancreatic islets
Accession: GSE159717

GEO DataSets
EST366192 MAGE resequences, MAGC Homo sapiens cDNA, mRNA sequence
EST366192 MAGE resequences, MAGC Homo sapiens cDNA, mRNA sequence
gi|8143805|gnl|dbEST|4459616|gb|AW9 .1|

Nucleotide

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