PMC Articles for MedGen (Select 120563) - PMC

Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau

J Hum Genet. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: J Hum Genet. 2017 Apr; 62(4): 465–471. Published online 2016 Dec 22. doi: 10.1038/jhg.2016.151

PMCID:: PMC5370204

Abstract Article PDF–478K

Select item 42285785.

Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature

Daipayan Chatterjee

Indian J Hum Genet. 2014 Apr-Jun; 20(2): 206–208. doi: 10.4103/0971-6866.142914

PMCID:: PMC4228578

Abstract Article PDF–403K

Select item 16987006.

Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia

C. Bergmann, J. Senderek, D. Anhuf, C. T. Thiel, A. B. Ekici, P. Poblete-Gutiérrez, M. van Steensel, D. Seelow, G. Nürnberg, H. H. Schild, P. Nürnberg, A. Reis, J. Frank, K. Zerres

Am J Hum Genet. 2006 Dec; 79(6): 1105–1109. Published online 2006 Oct 17. doi: 10.1086/509789

PMCID:: PMC1698700

Abstract Article PDF–472K

Select item 10516417.

Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family.

N C Nevin, P S Thomas, D J Eedy, C Shepherd

J Med Genet. 1995 Aug; 32(8): 638–641. doi: 10.1136/jmg.32.8.638

PMCID:: PMC1051641

Summary Page Browse PDF–1.4M

Select item 10127798.

Recessive anonychia totalis and dominant aplasia (or hypoplasia) of upper lateral incisors in the same kindred

N. Freire-Maia, Marta Pinheiro

J Med Genet. 1979 Feb; 16(1): 45–48. doi: 10.1136/jmg.16.1.45

PMCID:: PMC1012779

Summary Page Browse PDF–864K

Select item 81848309.

Single-cell RNA sequencing of human nail unit defines RSPO4 onychofibroblasts and SPINK6 nail epithelium

Hyun Je Kim, Joon Ho Shim, Ji-Hye Park, Hyun Tae Shin, Jong Sup Shim, Kee-Taek Jang, Woong-Yang Park, Kyung-Hoon Lee, Eun Ji Kwon, Hyung-Suk Jang, Hanseul Yang, Jong Hee Lee, Jun-Mo Yang, Dongyoun Lee

Commun Biol. 2021; 4: 692. Published online 2021 Jun 7. doi: 10.1038/s42003-021-02223-w

PMCID:: PMC8184830

Abstract Article PDF–5.2M

Select item 614102110.

Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3

MA Rafiq, M Ansar, T Pham, M Amin-ud-din, M Anwar, S Haque, MH Chahrour, K Yan, SM Leal, W Ahmad

Clin Genet. Author manuscript; available in PMC 2018 Sep 17.

Published in final edited form as: Clin Genet. 2004 Jul; 66(1): 73–78. doi: 10.1111/j.0009-9163.2004.00273.x

PMCID:: PMC6141021

Article PDF–657K

Select item 478917411.

Hoyeraal-Hreidarsson Syndrome Due to PARN Mutations: Fourteen Years of Follow-up

Ashley M. Burris, Bari J. Ballew, Joshua B. Kentosh, Clesson E. Turner, Scott A. Norton, NCI DCEG Cancer Genomics Research Laboratory, NCI DCEG Cancer Sequencing Working Group, Neelam Giri, Blanche P. Alter, Anandani Nellan, Christopher Gamper, Kip R. Hartman, Sharon A. Savage

Pediatr Neurol. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Pediatr Neurol. 2016 Mar; 56: 62–68.e1. Published online 2015 Dec 19. doi: 10.1016/j.pediatrneurol.2015.12.005