PMC Links for Nucleotide (Select 158081724) - PMC

Select item 29664641.

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

Select item 62447422.

ALS and CHARGE syndrome: a clinical and genetic study

Carmine Ungaro, Luigi Citrigno, Francesca Trojsi, Teresa Sprovieri, Giulia Gentile, Maria Muglia, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Sebastiano Cavallaro, Francesca Luisa Conforti

Acta Neurol Belg. 2018; 118(4): 629–635. Published online 2018 Oct 13. doi: 10.1007/s13760-018-1029-2

PMCID:: PMC6244742

Article PDF–1.0M

Select item 58829483.

An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome

Jacqueline M. Ogier, Benedicta D. Arhatari, Marina R. Carpinelli, Bradley K. McColl, Michael A. Wilson, Rachel A. Burt

Sci Rep. 2018; 8: 5482. Published online 2018 Apr 3. doi: 10.1038/s41598-018-23856-8

PMCID:: PMC5882948

Article PDF–4.1M

Select item 58390494.

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

Marine Legendre, Montserrat Rodriguez - Ballesteros, Massimiliano Rossi, Véronique Abadie, Jeanne Amiel, Nicole Revencu, Patricia Blanchet, Frédéric Brioude, Marie-Ange Delrue, Yassamine Doubaj, Abdelaziz Sefiani, Christine Francannet, Muriel Holder-Espinasse, Pierre-Simon Jouk, Sophie Julia, Judith Melki, Sébastien Mur, Sophie Naudion, Jennifer Fabre-Teste, Tiffany Busa, Stephen Stamm, Stanislas Lyonnet, Tania Attie-Bitach, Alain Kitzis, Brigitte Gilbert-Dussardier, Frédéric Bilan

Eur J Hum Genet. 2018 Feb; 26(2): 287–292. Published online 2017 Dec 18. doi: 10.1038/s41431-017-0007-0

PMCID:: PMC5839049

Article PDF–1.3M

Select item 57779835.

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

Erfan Aref-Eshghi, David I. Rodenhiser, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Rebecca L. Hood, Dennis E. Bulman, Kristin D. Kernohan, Care4Rare Canada Consortium, Kym M. Boycott, Philippe M. Campeau, Charles Schwartz, Bekim Sadikovic

Am J Hum Genet. 2018 Jan 4; 102(1): 156–174. Published online 2018 Jan 4. doi: 10.1016/j.ajhg.2017.12.008

PMCID:: PMC5777983

Article PDF–3.0M

Select item 49706896.

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

Gina L O'Grady, Alan Ma, Deborah Sival, Monica T Y Wong, Tony Peduto, Manoj P Menezes, Helen Young, Leigh Waddell, Roula Ghaoui, Merrilee Needham, Monkol Lek, Kathryn N North, Daniel G MacArthur, Conny MA van Ravenswaaij-Arts, Nigel F Clarke

Eur J Hum Genet. 2016 Aug; 24(8): 1216–1219. Published online 2016 Jan 27. doi: 10.1038/ejhg.2015.276

PMCID:: PMC4970689

Article PDF–586K

Select item 45591627.

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

Elisa Pisaneschi, Pietro Sirleto, Francesca Romana Lepri, Silvia Genovese, Maria Lisa Dentici, Stefano Petrocchi, Adriano Angioni, Maria Cristina Digilio, Bruno Dallapiccola

BMC Med Genet. 2015; 16: 78. Published online 2015 Sep 3. doi: 10.1186/s12881-015-0225-7

PMCID:: PMC4559162

Article PDF–746K

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