PMC Articles for MedGen (Select 906099) - PMC

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Select item 14741021.

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

Capucine Delnatte, Damien Sanlaville, Jean-François Mougenot, Joris-Robert Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Genevieve, Olivier Goulet, Jean-Pierre Fryns, Francis Jaubert, Michel Vekemans, Stanislas Lyonnet, Serge Romana, Charis Eng, Dominique Stoppa-Lyonnet

Am J Hum Genet. 2006 Jun; 78(6): 1066–1074. Published online 2006 Apr 14. doi: 10.1086/504301

PMCID:: PMC1474102

Abstract Article PDF–1.3M

Select item 32368032.

Juvenile Polyposis and Other Intestinal Polyposis Syndromes with Microdeletions of Chromosome 10q22-23

Fadi S. Dahdaleh, Jennifer C. Carr, Daniel Calva, James R. Howe

Clin Genet. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Clin Genet. 2012 Feb; 81(2): 110–116. Published online 2011 Sep 6. doi: 10.1111/j.1399-0004.2011.01763.x

PMCID:: PMC3236803

Abstract Article PDF–476K

Select item 70343493.

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

Kevin J Monahan, Nicola Bradshaw, Sunil Dolwani, Bianca Desouza, Malcolm G Dunlop, James E East, Mohammad Ilyas, Asha Kaur, Fiona Lalloo, Andrew Latchford, Matthew D Rutter, Ian Tomlinson, Huw J W Thomas, James Hill, Hereditary CRC guidelines eDelphi consensus group

Gut. 2020 Mar; 69(3): 411–444. Published online 2019 Nov 28. doi: 10.1136/gutjnl-2019-319915

PMCID:: PMC7034349

Abstract Article PDF–1.5M

Select item 46959864.

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

Sapna Syngal, Randall E. Brand, James M. Church, Francis M. Giardiello, Heather L. Hampel, Randall W. Burt

Am J Gastroenterol. Author manuscript; available in PMC 2015 Dec 30.

Published in final edited form as: Am J Gastroenterol. 2015 Feb; 110(2): 223–263. Published online 2015 Feb 3. doi: 10.1038/ajg.2014.435

PMCID:: PMC4695986

Abstract Article PDF–879K

Select item 40326425.

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times

Alex Habel, Richard Herriot, Dinakantha Kumararatne, Jeremy Allgrove, Kate Baker, Helen Baxendale, Frances Bu’Lock, Helen Firth, Andrew Gennery, Anthony Holland, Claire Illingworth, Nigel Mercer, Merel Pannebakker, Andrew Parry, Anne Roberts, Beverly Tsai-Goodman

Eur J Pediatr. 2014; 173(6): 757–765. Published online 2014 Jan 3. doi: 10.1007/s00431-013-2240-z

PMCID:: PMC4032642

Abstract Article PDF–460K

Select item 112200976.

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

Thomas W. Laver, Matthew N. Wakeling, Richard C. Caswell, Benjamin Bunce, Daphne Yau, Jonna M. E. Männistö, Jayne A. L. Houghton, Jasmin J. Hopkins, Michael N. Weedon, Vrinda Saraff, Melanie Kershaw, Engela M. Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D. L. Owens, Sarah E. Flanagan

Eur J Hum Genet. 2024 Jul; 32(7): 813–818. Published online 2024 Apr 11. doi: 10.1038/s41431-024-01593-z

PMCID:: PMC11220097

Abstract Article PDF–904K

Select item 112030187.

An Unclassified Deletion Involving the Proximal Short Arm of Chromosome 10: A New Syndrome?

Graziano Santoro, Mariarosaria Incoronato, Edoardo Spagnoli, Ilaria Gabbiato, Simona Contini, Marta Piovan, Maurizio Ferrari, Cristina Lapucci, Daniela Zuccarello

Genes (Basel) 2024 Jun; 15(6): 650. Published online 2024 May 21. doi: 10.3390/genes15060650

PMCID:: PMC11203018

Abstract Article PDF–1.5M

Select item 112027788.

Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review

Maria Teresa Bonati, Agnese Feresin, Paolo Prontera, Paola Michieletto, Valeria Gambacorta, Giampietro Ricci, Eva Orzan

Genes (Basel) 2024 Jun; 15(6): 677. Published online 2024 May 23. doi: 10.3390/genes15060677

PMCID:: PMC11202778

Abstract Article PDF–1.0M

Select item 111899379.

Single-cell transcriptional profile of CD34+ hematopoietic progenitor cells from del(5q) myelodysplastic syndromes and impact of lenalidomide

Guillermo Serrano, Nerea Berastegui, Aintzane Díaz-Mazkiaran, Paula García-Olloqui, Carmen Rodriguez-Res, Sofia Huerga-Dominguez, Marina Ainciburu, Amaia Vilas-Zornoza, Patxi San Martin-Uriz, Paula Aguirre-Ruiz, Asier Ullate-Agote, Beñat Ariceta, Jose-Maria Lamo-Espinosa, Pamela Acha, Oriol Calvete, Tamara Jimenez, Antonieta Molero, Maria Julia Montoro, Maria Díez-Campelo, David Valcarcel, Francisco Solé, Ana Alfonso-Pierola, Idoia Ochoa, Felipe Prósper, Teresa Ezponda, Mikel Hernaez

Nat Commun. 2024; 15: 5272. Published online 2024 Jun 20. doi: 10.1038/s41467-024-49529-x

PMCID:: PMC11189937

Abstract Article PDF–22M

Select item 1118822210.

Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil

Hiago Azevedo Cintra, Danielle Nascimento Rocha, Ana Carolina Carioca da Costa, Latife Salomão Tyszler, Silvia Freitas, Leonardo Abreu de Araujo, Lisanne Incoutto Crozoe, Luísa Ribeiro de Paula, Patricia Santana Correia, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida

Orphanet J Rare Dis. 2024; 19: 240. Published online 2024 Jun 20. doi: 10.1186/s13023-024-03157-2

PMCID:: PMC11188222

Abstract Article PDF–2.2M

Select item 1118688011.

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes

Viviana Tritto, Paola Bettinaglio, Eleonora Mangano, Claudia Cesaretti, Federica Marasca, Chiara Castronovo, Roberta Bordoni, Cristina Battaglia, Veronica Saletti, Valeria Ranzani, Beatrice Bodega, Marica Eoli, Federica Natacci, Paola Riva

Hum Genet. 2024; 143(6): 775–795. Published online 2024 Jun 14. doi: 10.1007/s00439-024-02683-0

PMCID:: PMC11186880

Abstract Article PDF–2.0M

Select item 1118687812.

18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency

Sho Hashiguchi, Dan Tomomasa, Takuro Nishikawa, Shuji Ishikawa, Harumi Akaike, Hidehiko Kobae, Tsuyoshi Shirai, Toshikage Nagao, Kosuke Noma, Satoshi Okada, Kazuhiro Kamuro, Yasuhiro Okamoto, Hirokazu Kanegane

J Clin Immunol. 2024; 44(7): 154. Published online 2024 Jun 19. doi: 10.1007/s10875-024-01751-4

PMCID:: PMC11186878

Abstract Article PDF–2.1M

Select item 1117247713.

Studying the Effect of the Host Genetic Background of Juvenile Polyposis Development Using Collaborative Cross and Smad4 Knock-Out Mouse Models

Osayd Zohud, Kareem Midlej, Iqbal M. Lone, Aysar Nashef, Imad Abu-Elnaaj, Fuad A. Iraqi

Int J Mol Sci. 2024 Jun; 25(11): 5812. Published online 2024 May 27. doi: 10.3390/ijms25115812

PMCID:: PMC11172477

Abstract Article PDF–2.8M

Select item 1117190314.

Deletion of the Murine Ortholog of the Human 9p21.3 Locus Leads to Insulin Resistance and Obesity in Hypercholesterolemic Mice

Sanna Kettunen, Tuisku Suoranta, Sadegh Beikverdi, Minja Heikkilä, Anna Slita, Iida Räty, Elias Ylä-Herttuala, Katariina Öörni, Anna-Kaisa Ruotsalainen, Seppo Ylä-Herttuala

Cells. 2024 Jun; 13(11): 983. Published online 2024 Jun 5. doi: 10.3390/cells13110983

PMCID:: PMC11171903

Abstract Article PDF–3.5M

Select item 1116956915.

Chronic spindle assembly checkpoint activation causes myelosuppression and gastrointestinal atrophy

Gerlinde Karbon, Fabian Schuler, Vincent Z Braun, Felix Eichin, Manuel Haschka, Mathias Drach, Rocio Sotillo, Stephan Geley, Diana CJ Spierings, Andrea E Tijhuis, Floris Foijer, Andreas Villunger

EMBO Rep. 2024 Jun; 25(6): 2743–2772. Published online 2024 May 28. doi: 10.1038/s44319-024-00160-3

PMCID:: PMC11169569

Abstract Article PDF–6.9M

Select item 1116501216.

Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models

Amandine Thibaudeau, Karen Schmitt, Louise François, Laure Chatrousse, David Hoffmann, Loic Cousin, Amélie Weiss, Aurore Vuidel, Christina B. Jacob, Peter Sommer, Alexandra Benchoua, Johannes H. Wilbertz

Transl Psychiatry. 2024; 14: 249. Published online 2024 Jun 10. doi: 10.1038/s41398-024-02947-3