PMC Articles for MedGen (Select 336542) - PMC

Eimear E Kenny, Nicholas J Timpson, Martin Sikora, Muh-Ching Yee, Andres Moreno Estrada, Celeste Eng, Scott Huntsman, Esteban González Burchard, Mark Stoneking, Carlos D Bustamante, Sean M Myles

Science. Author manuscript; available in PMC 2012 Oct 26.

Published in final edited form as: Science. 2012 May 4; 336(6081): 554. doi: 10.1126/science.1217849

PMCID:: PMC3481182

Abstract Article PDF–1.7M

Select item 103795884.

A Multisample Approach in Forensic Phenotyping of Chronological Old Skeletal Remains Using Massive Parallel Sequencing (MPS) Technology

Jezerka Inkret, Tomaž Zupanc, Irena Zupanič Pajnič

Genes (Basel) 2023 Jul; 14(7): 1449. Published online 2023 Jul 14. doi: 10.3390/genes14071449

PMCID:: PMC10379588

Abstract Article PDF–459K

Select item 96901255.

Predicting Eye and Hair Color in a Turkish Population Using the HIrisPlex System

Ilksen Sari O, Sumeyye Zulal Simsek, Gonul Filoglu, Ozlem Bulbul

Genes (Basel) 2022 Nov; 13(11): 2094. Published online 2022 Nov 11. doi: 10.3390/genes13112094

PMCID:: PMC9690125

Abstract Article PDF–1.0M

Select item 86062056.

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy

Mol Genet Genomic Med. 2021 Nov; 9(11): e1829. Published online 2021 Oct 5. doi: 10.1002/mgg3.1829

PMCID:: PMC8606205

Abstract Article PDF–1.8M

Select item 78459967.

Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect

Julia Böck, Einar Krogsaeter, Marcel Passon, Yu-Kai Chao, Sapna Sharma, Harald Grallert, Annette Peters, Christian Grimm

PLoS Genet. 2021 Jan; 17(1): e1009236. Published online 2021 Jan 19. doi: 10.1371/journal.pgen.1009236

PMCID:: PMC7845996

Abstract Article PDF–3.2M

Select item 76508588.

The Correlation Between Hair and Eye Colour and Contralateral Suppression of Otoacoustic Emissions

Marike Klopper, Leigh Biagio–de Jager, Bart Vinck

Noise Health. 2019 Jul-Aug; 21(101): 155–163. Published online 2020 Jul 25. doi: 10.4103/nah.NAH_36_19

PMCID:: PMC7650858

Abstract Article

Select item 75839249.

Iris Colour and the Risk of Developing Uveal Melanoma

Laurien E. Houtzagers, Annemijn P. A. Wierenga, Aleid A. M. Ruys, Gregorius P. M. Luyten, Martine J. Jager

Int J Mol Sci. 2020 Oct; 21(19): 7172. Published online 2020 Sep 28. doi: 10.3390/ijms21197172

PMCID:: PMC7583924

Abstract Article PDF–402K

Select item 718727710.

Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study

S. Polubothu, V.A. Kinsler

Br J Dermatol. 2020 Mar; 182(3): 721–728. Published online 2019 Aug 7. doi: 10.1111/bjd.18149

PMCID:: PMC7187277

Abstract Article PDF–1.3M

Select item 632009111.

A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient

Rao Rao, Shan Shu, Yong Zhu Han, Yu-Jen Chiu, Yong Sheng Han

Medicine (Baltimore) 2018 Dec; 97(50): e13744. Published online 2018 Dec 14. doi: 10.1097/MD.0000000000013744

PMCID:: PMC6320091

Abstract Article PDF–330K

Select item 628809112.

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability

Michael D. Morgan, Erola Pairo-Castineira, Konrad Rawlik, Oriol Canela-Xandri, Jonathan Rees, David Sims, Albert Tenesa, Ian J. Jackson

Nat Commun. 2018; 9: 5271. Published online 2018 Dec 10. doi: 10.1038/s41467-018-07691-z

PMCID:: PMC6288091

Abstract Article PDF–1.0M

Select item 609194813.

Pigmentation phototype and prostate and breast cancer in a select Spanish population—A Mendelian randomization analysis in the MCC-Spain study

Inés Gómez-Acebo, Trinidad Dierssen-Sotos, Camilo Palazuelos, Pablo Fernández-Navarro, Gemma Castaño-Vinyals, Jéssica Alonso-Molero, Carmen Urtiaga, Tania Fernández-Villa, Eva Ardanaz, Manuel Rivas-del-Fresno, Ana Molina-Barceló, José-Juan Jiménez-Moleón, Lidia García-Martinez, Pilar Amiano, Paz Rodriguez-Cundin, Víctor Moreno, Beatriz Pérez-Gómez, Nuria Aragonés, Manolis Kogevinas, Marina Pollán, Javier Llorca

PLoS One. 2018; 13(8): e0201750. Published online 2018 Aug 14. doi: 10.1371/journal.pone.0201750

PMCID:: PMC6091948

Abstract Article PDF–1.0M

Select item 593523714.

Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

Pirro G. Hysi, Ana Valdes, Fan Liu, Nicholas A. Furlotte, David M. Evans, Veronique Bataille, Alessia Visconti, Gibran Hemani, George McMahon, Susan M. Ring, George Davey Smith, David L. Duffy, Gu Zhu, Scott D. Gordon, Sarah E. Medland, Bochao D. Lin, Gonneke Willemsen, JoukeJan Hottenga, Dragana Vuckovic, Giorgia Girotto, Ilaria Gandin, Cinzia Sala, Maria Pina Concas, Marco Brumat, Paolo Gasparini, Daniela Toniolo, Massimiliano Cocca, Antonietta Robino, Seyhan Yazar, Alex W. Hewitt, Yan Chen, Changqing Zeng, Andre G. Uitterlinden, M. Arfan Ikram, Merel A. Hamer, Cornelia M. van Duijn, Tamar Nijsten, David A. Mackey, Mario Falchi, Dorret I. Boomsma, Nicholas G. Martin, The International Visible Trait Genetics Consortium, David A. Hinds, Manfred Kayser, Timothy D. Spector

Nat Genet. Author manuscript; available in PMC 2018 Oct 16.

Published in final edited form as: Nat Genet. 2018 May; 50(5): 652–656. Published online 2018 Apr 16. doi: 10.1038/s41588-018-0100-5

Correction in:: Nat Genet. 2019 May 31

PMCID:: PMC5935237

Abstract Article PDF–992K

Select item 564268915.

TPC2 polymorphisms associated with a hair pigmentation phenotype in humans result in gain of channel function by independent mechanisms

Yu-Kai Chao, Verena Schludi, Cheng-Chang Chen, Elisabeth Butz, O. N. Phuong Nguyen, Martin Müller, Jens Krüger, Claudia Kammerbauer, Manu Ben-Johny, Angelika M. Vollmar, Carola Berking, Martin Biel, Christian A. Wahl-Schott, Christian Grimm

Proc Natl Acad Sci U S A. 2017 Oct 10; 114(41): E8595–E8602. Published online 2017 Sep 18. doi: 10.1073/pnas.1705739114

PMCID:: PMC5642689

Abstract Article PDF–1.6M

Select item 529224016.

Alx3 regulates the spatial differences in hair pigment underlying stripe patterns in rodents

Ricardo Mallarino, Corneliu Henegar, Mercedes Mirasierra, Marie Manceau, Carsten Shradin, Mario Vallejo, Slobodan Beronja, Gregory S. Barsh, Hopi E. Hoekstra

Nature. Author manuscript; available in PMC 2017 Feb 5.

Published in final edited form as: Nature. 2016 Nov 24; 539(7630): 518–523. Published online 2016 Nov 2. doi: 10.1038/nature20109

PMCID:: PMC5292240

Abstract Article PDF–1.7M

Select item 518207117.

Detection of human adaptation during the past 2000 years

Yair Field, Evan A Boyle, Natalie Telis, Ziyue Gao, Kyle J. Gaulton, David Golan, Loic Yengo, Ghislain Rocheleau, Philippe Froguel, Mark I. McCarthy, Jonathan K. Pritchard

Science. Author manuscript; available in PMC 2016 Dec 23.

Published in final edited form as: Science. 2016 Nov 11; 354(6313): 760–764. Published online 2016 Oct 13. doi: 10.1126/science.aag0776

PMCID:: PMC5182071

Abstract Article PDF–800K

Select item 514211518.

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

F. Buket Ü. Basmanav, Laura Cau, Aylar Tafazzoli, Marie-Claire Méchin, Sabrina Wolf, Maria Teresa Romano, Frederic Valentin, Henning Wiegmann, Anne Huchenq, Rima Kandil, Natalie Garcia Bartels, Arzu Kilic, Susannah George, Damian J. Ralser, Stefan Bergner, David J.P. Ferguson, Ana-Maria Oprisoreanu, Maria Wehner, Holger Thiele, Janine Altmüller, Peter Nürnberg, Daniel Swan, Darren Houniet, Aline Büchner, Lisa Weibel, Nicola Wagner, Ramon Grimalt, Anette Bygum, Guy Serre, Ulrike Blume-Peytavi, Eli Sprecher, Susanne Schoch, Vinzenz Oji, Henning Hamm, Paul Farrant, Michel Simon, Regina C. Betz

Am J Hum Genet. 2016 Dec 1; 99(6): 1292–1304. Published online 2016 Nov 17. doi: 10.1016/j.ajhg.2016.10.004

PMCID:: PMC5142115

Abstract Article PDF–3.7M

Select item 485544519.

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report

Viviana Karina Dalamón, Paula Buonfiglio, Margarita Larralde, Patricio Craig, Vanesa Lotersztein, Keith Choate, Norma Pallares, Vicente Diamante, Ana Belén Elgoyhen

BMC Med Genet. 2016; 17: 37. Published online 2016 May 4. doi: 10.1186/s12881-016-0298-y

PMCID:: PMC4855445

Abstract Article PDF–1.9M

Select item 398820720.

MITF E318K’s effect on melanoma risk independent of, but modified by, other risk factors

Marianne Berwick, Jamie MacArthur, Irene Orlow, Peter Kanetsky, Colin B. Begg, Li Luo, Anne Reiner, Ajay Sharma, Bruce K. Armstrong, Anne Kricker, Anne E. Cust, Loraine D. Marrett, Stephen B. Gruber, Hoda Anton-Culver, Roberto Zanetti, Stefano Rosso, Richard P. Gallagher, Terrance Dwyer, Alison Venn, Klaus Busam, Lynn From, Kirsten White, Nancy E. Thomas

Pigment Cell Melanoma Res. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Pigment Cell Melanoma Res. 2014 May; 27(3): 485–488. Published online 2014 Jan 30. doi: 10.1111/pcmr.12215

PMCID:: PMC3988207

Abstract Article PDF–286K

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