TY - JOUR AU - Wei, Y. F. PY - 1995 DA - 1995// TI - Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination JO - Mol Cell Biol VL - 15 UR - https://doi.org/10.1128/MCB.15.6.3206 DO - 10.1128/MCB.15.6.3206 ID - Wei1995 ER - TY - JOUR AU - Frank, K. M. PY - 1998 DA - 1998// TI - Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV JO - Nature VL - 396 UR - https://doi.org/10.1038/24172 DO - 10.1038/24172 ID - Frank1998 ER - TY - JOUR AU - Frank, K. M. PY - 2000 DA - 2000// TI - DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway JO - Mol Cell VL - 5 UR - https://doi.org/10.1016/S1097-2765(00)80264-6 DO - 10.1016/S1097-2765(00)80264-6 ID - Frank2000 ER - TY - JOUR AU - Helleday, T. PY - 2007 DA - 2007// TI - DNA double-strand break repair: from mechanistic understanding to cancer treatment JO - DNA Repair (Amst) VL - 6 UR - https://doi.org/10.1016/j.dnarep.2007.02.006 DO - 10.1016/j.dnarep.2007.02.006 ID - Helleday2007 ER - TY - JOUR AU - Riballo, E. PY - 1999 DA - 1999// TI - Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient JO - Curr Biol VL - 9 UR - https://doi.org/10.1016/S0960-9822(99)80311-X DO - 10.1016/S0960-9822(99)80311-X ID - Riballo1999 ER - TY - JOUR AU - Toita, N. PY - 2007 DA - 2007// TI - Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome JO - Am J Med Genet A VL - 143A UR - https://doi.org/10.1002/ajmg.a.31644 DO - 10.1002/ajmg.a.31644 ID - Toita2007 ER - TY - JOUR AU - Enders, A. PY - 2006 DA - 2006// TI - A severe form of human combined immunodeficiency due to mutations in DNA ligase IV JO - J Immunol VL - 176 UR - https://doi.org/10.4049/jimmunol.176.8.5060 DO - 10.4049/jimmunol.176.8.5060 ID - Enders2006 ER - TY - JOUR AU - Ben-Omran, T. I. PY - 2005 DA - 2005// TI - A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome JO - Am J Med Genet A VL - 137A UR - https://doi.org/10.1002/ajmg.a.30869 DO - 10.1002/ajmg.a.30869 ID - Ben-Omran2005 ER - TY - JOUR AU - O’Driscoll, M. PY - 2001 DA - 2001// TI - DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency JO - Mol Cell VL - 8 UR - https://doi.org/10.1016/S1097-2765(01)00408-7 DO - 10.1016/S1097-2765(01)00408-7 ID - O’Driscoll2001 ER - TY - JOUR AU - Unal, S. PY - 2009 DA - 2009// TI - A novel mutation in a family with DNA ligase IV deficiency syndrome JO - Pediatr Blood Cancer VL - 53 UR - https://doi.org/10.1002/pbc.22031 DO - 10.1002/pbc.22031 ID - Unal2009 ER - TY - JOUR AU - Burg, M. PY - 2006 DA - 2006// TI - A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation JO - J Clin Invest VL - 116 UR - https://doi.org/10.1172/JCI26121 DO - 10.1172/JCI26121 ID - Burg2006 ER - TY - JOUR AU - Buck, D. PY - 2006 DA - 2006// TI - Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV JO - Eur J Immunol VL - 36 UR - https://doi.org/10.1002/eji.200535401 DO - 10.1002/eji.200535401 ID - Buck2006 ER - TY - JOUR AU - IJspeert, H. PY - 2013 DA - 2013// TI - Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities JO - Hum Mutat VL - 34 UR - https://doi.org/10.1002/humu.22436 DO - 10.1002/humu.22436 ID - IJspeert2013 ER - TY - JOUR AU - Murray, J. E. PY - 2014 DA - 2014// TI - Extreme growth failure is a common presentation of ligase IV deficiency JO - Hum Mutat VL - 35 UR - https://doi.org/10.1002/humu.22461 DO - 10.1002/humu.22461 ID - Murray2014 ER - TY - JOUR AU - Yue, J. PY - 2013 DA - 2013// TI - Identification of the DNA repair defects in a case of Dubowitz syndrome JO - PLoS One VL - 8 UR - https://doi.org/10.1371/journal.pone.0054389 DO - 10.1371/journal.pone.0054389 ID - Yue2013 ER - TY - JOUR AU - Stewart, D. R. PY - 2014 DA - 2014// TI - Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders JO - PLoS One VL - 9 UR - https://doi.org/10.1371/journal.pone.0098686 DO - 10.1371/journal.pone.0098686 ID - Stewart2014 ER - TY - JOUR AU - Stuart, H. M. PY - 2013 DA - 2013// TI - LRIG2 mutations cause urofacial syndrome JO - Am J Hum Genet VL - 92 UR - https://doi.org/10.1016/j.ajhg.2012.12.002 DO - 10.1016/j.ajhg.2012.12.002 ID - Stuart2013 ER - TY - JOUR AU - Ochoa, B. AU - Gorlin, R. J. PY - 1987 DA - 1987// TI - Urofacial (ochoa) syndrome JO - Am J Med Genet VL - 27 UR - https://doi.org/10.1002/ajmg.1320270320 DO - 10.1002/ajmg.1320270320 ID - Ochoa1987 ER - TY - JOUR AU - Aydogdu, O. PY - 2010 DA - 2010// TI - Ochoa syndrome: a spectrum of urofacial syndrome JO - Eur J Pediatr VL - 169 UR - https://doi.org/10.1007/s00431-009-1042-9 DO - 10.1007/s00431-009-1042-9 ID - Aydogdu2010 ER - TY - JOUR AU - Ochoa, B. PY - 2004 DA - 2004// TI - Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated JO - Pediatr Nephrol VL - 19 UR - https://doi.org/10.1007/s00467-003-1291-1 DO - 10.1007/s00467-003-1291-1 ID - Ochoa2004 ER - TY - JOUR AU - Chistiakov, D. A. PY - 2010 DA - 2010// TI - Ligase IV syndrome JO - Adv Exp Med Biol VL - 685 UR - https://doi.org/10.1007/978-1-4419-6448-9_16 DO - 10.1007/978-1-4419-6448-9_16 ID - Chistiakov2010 ER -