PMC Articles for MedGen (Select 934614) - PMC

Select item 75915771.

ATRIP protects progenitor cells against DNA damage in vivo

Gabriel E. Matos-Rodrigues, Paulius Grigaravicius, Bernard S. Lopez, Thomas Hofmann, Pierre-Olivier Frappart, Rodrigo A. P. Martins

Cell Death Dis. 2020 Oct; 11(10): 923. Published online 2020 Oct 28. doi: 10.1038/s41419-020-03090-9

Correction in:: Cell Death Dis. 2020 Dec; 11(12): 1074.

PMCID:: PMC7591577

Article PDF–3.4M

Select item 69362492.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Ender Karaca, Jennifer E. Posey, Bret Bostwick, Pengfei Liu, Alper Gezdirici, Gozde Yesil, Zeynep Coban Akdemir, Yavuz Bayram, Frederike Leonie Harms, Peter Meinecke, Malik Alawi, Carlos A. Bacino, V. Reid Sutton, Fanny Kortum, James. R. Lupski

Am J Med Genet A. Author manuscript; available in PMC 2020 Oct 1.

Published in final edited form as: Am J Med Genet A. 2019 Oct; 179(10): 2056–2066. Published online 2019 Aug 13. doi: 10.1002/ajmg.a.61315

PMCID:: PMC6936249

Article PDF–874K

Select item 56020213.

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

Tuba Dinçer, Gülden Yorgancıoğlu-Budak, Akgün Ölmez, İdris Er, Yavuz Dodurga, Özmert MA Özdemir, Bayram Toraman, Adem Yıldırım, Nuran Sabir, Nurten A Akarsu, C Nur Semerci, Ersan Kalay

Eur J Hum Genet. 2017 Oct; 25(10): 1118–1125. Published online 2017 Aug 23. doi: 10.1038/ejhg.2017.120

PMCID:: PMC5602021

Article PDF–1.4M

Select item 50933104.

Replication intermediates that escape Dna2 activity are processed by Holliday junction resolvase Yen1

Gizem Ölmezer, Maryna Levikova, Dominique Klein, Benoît Falquet, Gabriele Alessandro Fontana, Petr Cejka, Ulrich Rass

Nat Commun. 2016; 7: 13157. Published online 2016 Oct 25. doi: 10.1038/ncomms13157

PMCID:: PMC5093310

Article PDF–3.1M

Select item 31885555.

CtIP Mutations Cause Seckel and Jawad Syndromes

Per Qvist, Pablo Huertas, Sonia Jimeno, Mette Nyegaard, Muhammad J. Hassan, Stephen P. Jackson, Anders D. Børglum

PLoS Genet. 2011 Oct; 7(10): e1002310. Published online 2011 Oct 6. doi: 10.1371/journal.pgen.1002310

PMCID:: PMC3188555

Article PDF–709K

Select item 10130186.

Familial Bird-headed Dwarfism (Seckel's Syndrome)

John J. Sauk, Richard Litt, Ceres E. Espiritu, James R. Delaney

J Med Genet. 1973 Jun; 10(2): 196–198. doi: 10.1136/jmg.10.2.196

PMCID:: PMC1013018

Summary Page Browse PDF–612K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 6

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity