PMC Links for Books (Select 1479894) - PMC

Select item 98230961.

Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event

Ananthapadmanabha Kotambail, Pavalan Selvam, Karthik Muthusamy, Maya Thomas, Sniya Valsa Sudhakar, Chetan Ghati, Sumita Danda, Gautham Arunachal

Eur J Hum Genet. 2023 Jan; 31(1): 73–80. Published online 2022 Oct 7. doi: 10.1038/s41431-022-01198-4

PMCID:: PMC9823096

Abstract Article PDF–1.0M

Select item 93144842.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 84880213.

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Anthony R. Gregg, Mahmoud Aarabi, Susan Klugman, Natalia T. Leach, Michael T. Bashford, Tamar Goldwaser, Emily Chen, Teresa N. Sparks, Honey V. Reddi, Aleksandar Rajkovic, Jeffrey S. Dungan, ACMG Professional Practice and Guidelines Committee

Genet Med. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Genet Med. 2021 Oct; 23(10): 1793–1806. Published online 2021 Jul 20. doi: 10.1038/s41436-021-01203-z

Correction in:: Genet Med. 2021 Oct; 23(10): 2015.

PMCID:: PMC8488021

Abstract Article PDF–643K

Select item 81324154.

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel, Florian S. Eichler

Orphanet J Rare Dis. 2021; 16: 227. Published online 2021 May 19. doi: 10.1186/s13023-020-01659-3

PMCID:: PMC8132415

Abstract Article PDF–882K

Select item 74972895.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 54128926.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Marisa I Mendes, Desirée EC Smith, Ana Pop, Pascal Lennertz, Matilde R Fernandez Ojeda, Warsha A Kanhai, Silvy JM van Dooren, Yair Anikster, Ivo Barić, Caroline Boelen, Jaime Campistol, Lonneke de Boer, Ariana Kariminejad, Hulya Kayserili, Agathe Roubertie, Krijn T Verbruggen, Christine Vianey‐Saban, Monique Williams, Gajja S Salomons

Hum Mutat. 2017 May; 38(5): 524–531. Published online 2017 Feb 14. doi: 10.1002/humu.23181

PMCID:: PMC5412892

Abstract Article PDF–1.5M

Select item 51424137.

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature

Steven T. Merrill, Gary R. Nelson, Nicola Longo, Joshua L. Bonkowsky

Orphanet J Rare Dis. 2016; 11: 169. Published online 2016 Dec 7. doi: 10.1186/s13023-016-0549-1

PMCID:: PMC5142413

Abstract Article PDF–491K

Select item 45447538.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 43073719.

The Clinical Features and Diagnosis of Canavan’s Disease: A Case Series of Iranian Patients

Parvaneh KARIMZADEH, Narjes JAFARI, Habibe NEJAD BIGLARI, Elham RAHIMIAN, Farzad AHMADABADI, Hamid NEMATI, Mohamad Mehdi NASEHI, Mohammad GHOFRANI, Mohsen MOLLAMOHAMMADI

Iran J Child Neurol. 2014 Autumn; 8(4): 66–71.

PMCID:: PMC4307371

Abstract Article PDF–1011K

Select item 191822110.

Canavan disease: mutations among Jewish and non-jewish patients.

R. Kaul, G. P. Gao, M. Aloya, K. Balamurugan, A. Petrosky, K. Michals, R. Matalon

Am J Hum Genet. 1994 Jul; 55(1): 34–41.

PMCID:: PMC1918221

Summary Page Browse PDF–1.5M

Select item 180139411.

Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population.

D Kronn, C Oddoux, J Phillips, H Ostrer

Am J Hum Genet. 1995 Nov; 57(5): 1250–1252.

PMCID:: PMC1801394

Summary Page Browse PDF–587K

Select item 180127212.

The Molecular Basis of Canavan (Aspartoacylase Deficiency) Disease in European Non-Jewish Patients

A. Shaag, Y. Anikster, E. Christensen, J. Z. Glustein, A. Fois, H. Michelakakis, F. Nigro, E. Pronicka, A. Ribes, M. T. Zabot, O. N. Elpeleg

Am J Hum Genet. 1995 Sep; 57(3): 572–580.

PMCID:: PMC1801272

Summary Page Browse PDF–1.6M

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