PMC Links for Books (Select 1467942) - PMC

Select item 93144841.

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

Select item 74972892.

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 73758423.

Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer–Rokitansky–Kuster–Hauser Syndromes

Monika Anant, Nutan Raj, Neelu Yadav, Arun Prasad, Subhash Kumar, Ajit K. Saxena

J Pediatr Genet. 2020 Sep; 9(3): 193–197. Published online 2019 Oct 30. doi: 10.1055/s-0039-1700577

PMCID:: PMC7375842

Abstract Article PDF–200K

Select item 65675124.

Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli

Ital J Pediatr. 2019; 45: 72. Published online 2019 Jun 13. doi: 10.1186/s13052-019-0659-1

PMCID:: PMC6567512

Abstract Article PDF–729K

Select item 55500105.

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein

Charles Anthony Scott, Autumn N. Marsden, Michael R. Rebagliati, Qihong Zhang, Xitiz Chamling, Charles C. Searby, Lisa M. Baye, Val C. Sheffield, Diane C. Slusarski

PLoS Genet. 2017 Jul; 13(7): e1006936. Published online 2017 Jul 28. doi: 10.1371/journal.pgen.1006936

PMCID:: PMC5550010

Abstract Article PDF–37M

Select item 47341526.

A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome

John D. Hulleman, Annie Nguyen, V.L. Ramprasad, Sakthivel Murugan, Ravi Gupta, Avinash Mahindrakar, Ravi Angara, Chandrasekhar Sankurathri, V. Vinod Mootha

Mol Vis. 2016; 22: 73–81. Published online 2016 Jan 24.

PMCID:: PMC4734152

Abstract Article PDF–1.4M

Select item 45447537.

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 33068548.

In search of triallelism in Bardet–Biedl syndrome

Leen Abu-Safieh, Shamsa Al-Anazi, Lama Al-Abdi, Mais Hashem, Hisham Alkuraya, Mushari Alamr, Mugtaba O Sirelkhatim, Zuhair Al-Hassnan, Basim Alkuraya, Jawahir Y Mohamed, Ahmad Al-Salem, May Alrashed, Eissa Faqeih, Ameen Softah, Amal Al-Hashem, Sami Wali, Zuhair Rahbeeni, Moeen Alsayed, Arif O Khan, Lihadh Al-Gazali, Peter EM Taschner, Selwa Al-Hazzaa, Fowzan S Alkuraya

Eur J Hum Genet. 2012 Apr; 20(4): 420–427. Published online 2012 Feb 22. doi: 10.1038/ejhg.2011.205

PMCID:: PMC3306854

Abstract Article PDF–477K

Select item 11802489.

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Victor L. Ruiz-Perez, Stuart W. J. Tompson, Helen J. Blair, Cecilia Espinoza-Valdez, Pablo Lapunzina, Elias O. Silva, Ben Hamel, John L. Gibbs, Ian D. Young, Michael J. Wright, Judith A. Goodship

Am J Hum Genet. 2003 Mar; 72(3): 728–732. Published online 2003 Feb 4. doi: 10.1086/368063

PMCID:: PMC1180248

Abstract Article PDF–323K

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