PMC Links for Books (Select 4489822) - 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

Abstract Article PDF–776K

Select item 75990162.

Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies

Roberto Berni Canani, Giuseppe Castaldo, Rosa Bacchetta, Martín G. Martín, Olivier Goulet

Nat Rev Gastroenterol Hepatol. Author manuscript; available in PMC 2020 Oct 30.

Published in final edited form as: Nat Rev Gastroenterol Hepatol. 2015 May; 12(5): 293–302. Published online 2015 Mar 17. doi: 10.1038/nrgastro.2015.44

PMCID:: PMC7599016

Abstract Article PDF–804K

Select item 58858083.

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years

Jochen Kammermeier, Robert Dziubak, Matilde Pescarin, Suzanne Drury, Heather Godwin, Kate Reeve, Sibongile Chadokufa, Bonita Huggett, Sara Sider, Chela James, Nikki Acton, Elena Cernat, Marco Gasparetto, Gabi Noble-Jamieson, Fevronia Kiparissi, Mamoun Elawad, Phil L. Beales, Neil J. Sebire, Kimberly Gilmour, Holm H. Uhlig, Chiara Bacchelli, Neil Shah

J Crohns Colitis. 2017 Jan; 11(1): 60–69. Published online 2016 Jun 14. doi: 10.1093/ecco-jcc/jjw118

PMCID:: PMC5885808

Abstract Article PDF–465K

Select item 54238094.

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic

David Bick, Pamela C. Fraser, Michael F. Gutzeit, Jeremy M. Harris, Tina M. Hambuch, Daniel C. Helbling, Howard J. Jacob, Juliet N. Kersten, Steven R. Leuthner, Thomas May, Paula E. North, Sasha Z. Prisco, Bryce A. Schuler, Mary Shimoyama, Kimberly A. Strong, Scott K. Van Why, Regan Veith, James Verbsky, Arthur M. Weborg, Jr., Brandon M. Wilk, Rodney E. Willoughby, Jr., Elizabeth A. Worthey, David P. Dimmock

J Pediatr Genet. 2017 Jun; 6(2): 61–76. Published online 2016 Nov 28. doi: 10.1055/s-0036-1593968

PMCID:: PMC5423809

Abstract Article PDF–533K

Select item 53512145.

Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

Craig Kinnear, Brigitte Glanzmann, Eric Banda, Nikola Schlechter, Glenda Durrheim, Annika Neethling, Etienne Nel, Mardelle Schoeman, Glynis Johnson, Paul D. van Helden, Eileen G. Hoal, Monika Esser, Michael Urban, Marlo Möller

BMC Med Genet. 2017; 18: 26. Published online 2017 Mar 14. doi: 10.1186/s12881-017-0388-5

PMCID:: PMC5351214

Abstract Article PDF–1.2M

Select item 47828766.

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency

Wen-I Lee, Jing-Long Huang, Chien-Chang Chen, Ju-Li Lin, Ren-Chin Wu, Tang-Her Jaing, Liang-Shiou Ou

Medicine (Baltimore) 2016 Mar; 95(9): e2918. Published online 2016 Mar 7. doi: 10.1097/MD.0000000000002918

PMCID:: PMC4782876

Abstract Article PDF–745K

Select item 47365877.

Trichohepatoenteric Syndrome or Syndromic Diarrhea—Report of Three Members in a Family, First Report from Iran

F. E. Mahjoub, F. Imanzadeh, S. Mahdavi Izadi, A. Nahali Moghaddam

Case Rep Pathol. 2016; 2016: 9684910. Published online 2016 Jan 6. doi: 10.1155/2016/9684910

PMCID:: PMC4736587

Abstract Article PDF–3.0M

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 43116089.

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

Nicholas L. Rider, Bertrand Boisson, Soma Jyonouchi, Eric P. Hanson, Sergio D. Rosenzweig, Jean-Laurent Casanova, Jordan S. Orange

Front Pediatr. 2015; 3: 2. Published online 2015 Jan 30. doi: 10.3389/fped.2015.00002

Correction in:: Front Pediatr. 2015; 3: 28.

PMCID:: PMC4311608

Abstract Article PDF–929K

Select item 420454310.

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

Alexandre Fabre, Catherine Badens

Intractable Rare Dis Res. 2014 Feb; 3(1): 8–11. doi: 10.5582/irdr.3.8

PMCID:: PMC4204543

Abstract Article PDF–493K

Select item 413941711.

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

Sterling C. Eckard, Gillian I. Rice, Alexandre Fabre, Catherine Badens, Elizabeth E. Gray, Jane L. Hartley, Yanick J. Crow, Daniel B. Stetson

Nat Immunol. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Nat Immunol. 2014 Sep; 15(9): 839–845. Published online 2014 Jul 27. doi: 10.1038/ni.2948

PMCID:: PMC4139417

Abstract Article PDF–1.0M

Select item 365903112.

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease

Neil V Morgan, Jane L Hartley, Kenneth DR Setchell, Michael A Simpson, Rachel Brown, Louise Tee, Sian Kirkham, Shanaz Pasha, Richard C Trembath, Eamonn R Maher, Paul Gissen, Deirdre A Kelly

Orphanet J Rare Dis. 2013; 8: 74. Published online 2013 May 16. doi: 10.1186/1750-1172-8-74

PMCID:: PMC3659031

Abstract Article PDF–344K

Select item 354292913.

Trichohepatoenteric Syndrome: Founder Mutation in Asian Indians

U.H. Kotecha, S. Movva, R.D. Puri, I.C. Verma

Mol Syndromol. 2012 Aug; 3(2): 89–93. Published online 2012 Jul 5. doi: 10.1159/000339896

PMCID:: PMC3542929

Abstract Article PDF–187K

Select item 332223914.

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure, Egritas Odul, Ersin Sayar, Hilary Smith, Virginie Colomb, Nicolas Andre, Jean-Pierre Hugot, Olivier Goulet, Caroline Lacoste, Jacques Sarles, Julien Royet, Nicolas Levy, Catherine Badens

Am J Hum Genet. 2012 Apr 6; 90(4): 689–692. doi: 10.1016/j.ajhg.2012.02.009

PMCID:: PMC3322239

Abstract Article PDF–307K

Select item 316665915.

MUTATIONS IN TTC37 CAUSE TRICHOHEPATOENTERIC SYNDROME (PHENOTYPIC DIARRHOEA OF INFANCY)

Jane Louise Hartley, Nicholas C. Zachos, Ban Dawood, Mark Donowitz, Julia Forman, Rodney J Pollitt, Neil V Morgan, Louise Tee, Paul Gissen, Walter H.A. Kahr, A.S. Knisely, Steve Watson, David Chitayat, IW Booth, Sue Protheroe, Stephen Murphy, Esther de Vries, Deirdre A Kelly, Eamonn R Maher

Gastroenterology. Author manuscript; available in PMC 2011 Sep 5.

Published in final edited form as: Gastroenterology. 2010 Jun; 138(7): 2388–2398.e2. Published online 2010 Feb 20. doi: 10.1053/j.gastro.2010.02.010

PMCID:: PMC3166659

Abstract Article PDF–1.2M

Select item 227910816.

Syndromic (phenotypic) diarrhea in early infancy

Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer, Jean-Pierre Cézard

Orphanet J Rare Dis. 2008; 3: 6. Published online 2008 Feb 28. doi: 10.1186/1750-1172-3-6

PMCID:: PMC2279108

Abstract Article PDF–564K

Select item 162758617.

Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.

L Stankler, D Lloyd, R J Pollitt, E S Gray, H Thom, G Russell

Arch Dis Child. 1982 Mar; 57(3): 212–216. doi: 10.1136/adc.57.3.212

PMCID:: PMC1627586

Summary Page Browse PDF–1.2M

Select item 136992618.

The yeast antiviral proteins Ski2p, Ski3p, and Ski8p exist as a complex in vivo.

J T Brown, X Bai, A W Johnson

RNA. 2000 Mar; 6(3): 449–457. doi: 10.1017/s1355838200991787

PMCID:: PMC1369926

Summary PDF–340K

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