PMC Links for Books (Select 1491180) - 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 74461343.

A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia

Yi Zhan, Shuaihantian Luo, Zixin Pi, Guiying Zhang

Hereditas. 2020; 157: 34. Published online 2020 Aug 25. doi: 10.1186/s41065-020-00148-8

PMCID:: PMC7446134

Abstract Article PDF–925K

Select item 69053984.

GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family

Xiaofeng Shi, Dongya Li, Min Chen, Yichen Liu, Qi Yan, Xianqiu Yu, Yan Zhu, Yumei Li

Int J Dermatol. 2019 Dec; 58(12): 1462–1465. Published online 2019 Jan 8. doi: 10.1111/ijd.14341

PMCID:: PMC6905398

Article PDF–501K

Select item 64401775.

Mutation–Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype

Sangeeta Khatter, Ratna Dua Puri, Sunita Bijarnia Mahay, Pratibha Bhai, Renu Saxena, Ishwar C Verma

Indian J Dermatol. 2019 Mar-Apr; 64(2): 143–145. doi: 10.4103/ijd.IJD_510_17

PMCID:: PMC6440177

Abstract Article

Select item 64215676.

Ectodermal Dysplasias: Classification and Organization by Phenotype, Genotype and Molecular Pathway

Wright Timothy, Mary Fete, Holm Schneider, Madeline Zinser, Maranke I. Koster, Angus J. Clarke, Smail Hadj Rabia, Gianluca Tadini, Nina Pagnan, Atila Fernando Visinoni, Birgitta Bergendal, Becky Abbott, Timothy Fete, Clark Stanford, Clayton Butcher, Rena D’ Souza, Virginia Sybert

Am J Med Genet A. Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: Am J Med Genet A. 2019 Mar; 179(3): 442–447. Published online 2019 Jan 31. doi: 10.1002/ajmg.a.61045

PMCID:: PMC6421567

Abstract Article PDF–332K

Select item 47319257.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

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 40567149.

Clouston syndrome associated with eccrine syringofibroadenoma

Ana Carolina Dias Viana de Andrade, Denise Cardoso Vieira, Olga Maria Oiticica Harris, Matheus Melo Pithon

An Bras Dermatol. 2014 May-Jun; 89(3): 504–506. doi: 10.1590/abd1806-4841.20142996

Correction in:: An Bras Dermatol. 2014 Jul-Aug; 89(4): 692.

PMCID:: PMC4056714

Abstract Article PDF–198K

Select item 377665010.

Clouston Syndrome: First Case in Russia

AV Marakhonov, MYu Skoblov, VA Galkina, RA Zinchenko

Balkan J Med Genet. 2012 Jun; 15(1): 51–54. Published online 2012 Jul 20. doi: 10.2478/v10034-012-0008-9

PMCID:: PMC3776650

Abstract Article PDF–278K

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