PMC Links for Books (Select 5334878) - PMC

Select item 74975641.

Livedo Racemosa – The Pathophysiology of Decompression-Associated Cutis Marmorata and Right/Left Shunt

Frank Hartig, Norbert Reider, Martin Sojer, Alexander Hammer, Thomas Ploner, Claus-Martin Muth, Herbert Tilg, Andrea Köhler

Front Physiol. 2020; 11: 994. Published online 2020 Sep 3. doi: 10.3389/fphys.2020.00994

PMCID:: PMC7497564

Abstract Article PDF–2.9M

Select item 71878902.

GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G_α/11 Mosaicism and the Associated Clinical Diagnoses

Satyamaanasa Polubothu, Lara Al-Olabi, Maria Carmen del Boente, Alisha Chacko, Georgios Eleftheriou, Mary Glover, David Jiménez-Gallo, Elizabeth A. Jones, Debra Lomas, Regina Fölster-Holst, Samira Syed, Monika Tasani, Anna Thomas, Martin Tisdall, Antonio Torrelo, Sarah Aylett, Veronica A. Kinsler

J Invest Dermatol. 2020 May; 140(5): 1110–1113. doi: 10.1016/j.jid.2019.10.019

PMCID:: PMC7187890

Article PDF–419K

Select item 68941233.

Cutis marmorata telangiectatica congenita: a literature review

Teresa Nu Phuong Trinh Bui, Ayse Corap, Anette Bygum

Orphanet J Rare Dis. 2019; 14: 283. Published online 2019 Dec 4. doi: 10.1186/s13023-019-1229-8

PMCID:: PMC6894123

Abstract Article PDF–1.1M

Select item 61944484.

Cutis marmorata telangiectatica congenita with skin ulceration: a rare benign skin vascular malformation

Deng Jia, Victor Samuel Rajadurai, Suresh Chandran

BMJ Case Rep. 2018; 2018: bcr2018226763. Published online 2018 Oct 7. doi: 10.1136/bcr-2018-226763

PMCID:: PMC6194448

Article PDF–607K

Select item 55117725.

A Somatic GNA11 Mutation is Associated with Extremity Capillary Malformation and Overgrowth

Javier A. Couto, Ugur M. Ayturk, Dennis J. Konczyk, Jeremy A. Goss, August Y. Huang, Steve Hann, Jennifer L. Reeve, Marilyn G. Liang, Joyce Bischoff, Matthew L. Warman, Arin K. Greene

Angiogenesis. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Angiogenesis. 2017 Aug; 20(3): 303–306. Published online 2017 Jan 24. doi: 10.1007/s10456-016-9538-1

PMCID:: PMC5511772

Abstract Article PDF–325K

Select item 48334326.

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma

Ugur M. Ayturk, Javier A. Couto, Steven Hann, John B. Mulliken, Kaitlin L. Williams, August Yue Huang, Steven J. Fishman, Theonia K. Boyd, Harry P.W. Kozakewich, Joyce Bischoff, Arin K. Greene, Matthew L. Warman

Am J Hum Genet. 2016 Apr 7; 98(4): 789–795. Published online 2016 Apr 7. doi: 10.1016/j.ajhg.2016.03.009

Correction in:: Am J Hum Genet. 2016 Jun 2; 98(6): 1271.

PMCID:: PMC4833432

Abstract Article PDF–1.8M

Select item 48034667.

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

Anna C. Thomas, Zhiqiang Zeng, Jean-Baptiste Rivière, Ryan O’Shaughnessy, Lara Al-Olabi, Judith St.-Onge, David J. Atherton, Hélène Aubert, Lorea Bagazgoitia, Sébastien Barbarot, Emmanuelle Bourrat, Christine Chiaverini, W. Kling Chong, Yannis Duffourd, Mary Glover, Leopold Groesser, Smail Hadj-Rabia, Henning Hamm, Rudolf Happle, Imran Mushtaq, Jean-Philippe Lacour, Regula Waelchli, Marion Wobser, Pierre Vabres, E. Elizabeth Patton, Veronica A. Kinsler

J Invest Dermatol. 2016 Apr; 136(4): 770–778. doi: 10.1016/j.jid.2015.11.027

PMCID:: PMC4803466

Abstract Article PDF–2.2M

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 41320109.

Cutis marmorata telangiectatica congenita restricted to both breasts in a young female

Snehal Balvant Lunge, Pradeep Mahajan

Dermatol Pract Concept. 2014 Jul; 4(3): 89–92. Published online 2014 Jul 31. doi: 10.5826/dpc.0403a20

PMCID:: PMC4132010

Abstract Article PDF–301K

Select item 310797210.

Mutations in GNA11 in Uveal Melanoma

Catherine D. Van Raamsdonk, Klaus G. Griewank, Michelle B. Crosby, Maria C. Garrido, Swapna Vemula, Thomas Wiesner, Anna C. Obenauf, Werner Wackernagel, Gary Green, Nancy Bouvier, M. Mert Sozen, Gail Baimukanova, Ritu Roy, Adriana Heguy, Igor Dolgalev, Raya Khanin, Klaus Busam, Michael R. Speicher, Joan O’Brien, Boris C. Bastian

N Engl J Med. Author manuscript; available in PMC 2011 Jun 4.

Published in final edited form as: N Engl J Med. 2010 Dec 2; 363(23): 2191–2199. Published online 2010 Nov 17. doi: 10.1056/NEJMoa1000584

PMCID:: PMC3107972

Abstract Article PDF–207K

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