TY - JOUR AU - Serre, D. AU - Nadon, R. AU - Hudson, T. J. PY - 2005 DA - 2005// TI - Large-scale recombination rate patterns are conserved among human populations JO - Genome Res VL - 15 UR - https://doi.org/10.1101/gr.4211905 DO - 10.1101/gr.4211905 ID - Serre2005 ER - TY - JOUR AU - Cooper, G. M. AU - Coe, B. P. AU - Girirajan, S. AU - Rosenfeld, J. A. AU - Vu, T. H. AU - Baker, C. AU - Williams, C. AU - Stalker, H. AU - Hamid, R. AU - Hannig, V. AU - Abdel-Hamid, H. AU - Bader, P. AU - McCracken, E. AU - Niyazov, D. AU - Leppig, K. AU - Thiese, H. AU - Hummel, M. AU - Alexander, N. AU - Gorski, J. AU - Kussmann, J. AU - Shashi, V. AU - Johnson, K. AU - Rehder, C. AU - Ballif, B. C. AU - Shaffer, L. G. AU - Eichler, E. E. PY - 2011 DA - 2011// TI - A copy number variation morbidity map of developmental delay JO - Nat Genet VL - 43 UR - https://doi.org/10.1038/ng.909 DO - 10.1038/ng.909 ID - Cooper2011 ER - TY - JOUR AU - Baldwin, E. L. AU - Lee, J. Y. AU - Blake, D. M. AU - Bunke, B. P. AU - Alexander, C. R. AU - Kogan, A. L. AU - Ledbetter, D. H. AU - Martin, C. L. PY - 2008 DA - 2008// TI - Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray JO - Genet Med VL - 10 UR - https://doi.org/10.1097/GIM.0b013e318177015c DO - 10.1097/GIM.0b013e318177015c ID - Baldwin2008 ER - TY - JOUR AU - Pickering, D. L. AU - Eudy, J. D. AU - Olney, A. H. AU - Dave, B. J. AU - Golden, D. AU - Stevens, J. AU - Sanger, W. G. PY - 2008 DA - 2008// TI - Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations JO - Genet Med VL - 10 UR - https://doi.org/10.1097/GIM.0b013e31816b64ad DO - 10.1097/GIM.0b013e31816b64ad ID - Pickering2008 ER - TY - JOUR AU - Fan, Y. AU - Linardopoulou, E. AU - Friedman, C. AU - Williams, E. AU - Trask, B. J. PY - 2002 DA - 2002// TI - Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes JO - Genome Res VL - 12 UR - https://doi.org/10.1101/gr.337602 DO - 10.1101/gr.337602 ID - Fan2002 ER - TY - JOUR AU - Antich, J. AU - Carbonell, X. AU - Mas, J. AU - Clusellas, N. PY - 1983 DA - 1983// TI - De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46, XY, del(2)(q12q14) JO - Acta Paediatr Scand VL - 72 UR - https://doi.org/10.1111/j.1651-2227.1983.tb09785.x DO - 10.1111/j.1651-2227.1983.tb09785.x ID - Antich1983 ER - TY - JOUR AU - Takahashi, Y. AU - Narahara, K. AU - Kikkawa, K. AU - Wakita, Y. AU - Kimura, S. AU - Murakami, M. AU - Kasai, R. AU - Kimoto, H. PY - 1985 DA - 1985// TI - Interstitial deletion of the long arm of chromosome 2: a case report and review of the literature JO - Jpn J Hum Genet VL - 30 UR - https://doi.org/10.1007/BF01907967 DO - 10.1007/BF01907967 ID - Takahashi1985 ER - TY - JOUR AU - Sumption, N. D. AU - Barber, J. C. PY - 2001 DA - 2001// TI - A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities JO - J Med Genet VL - 38 UR - https://doi.org/10.1136/jmg.38.2.125 DO - 10.1136/jmg.38.2.125 ID - Sumption2001 ER - TY - JOUR AU - Barber, J. C. AU - Maloney, V. K. AU - Bewes, B. AU - Wakeling, E. PY - 2006 DA - 2006// TI - Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype JO - Eur J Hum Genet VL - 14 UR - https://doi.org/10.1038/sj.ejhg.5201605 DO - 10.1038/sj.ejhg.5201605 ID - Barber2006 ER - TY - JOUR AU - Yu, H. E. AU - Hawash, K. AU - Picker, J. AU - Stoler, J. AU - Urion, D. AU - Wu, B. L. AU - Shen, Y. PY - 2012 DA - 2012// TI - A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism JO - Clin Genet VL - 81 UR - https://doi.org/10.1111/j.1399-0004.2011.01637.x DO - 10.1111/j.1399-0004.2011.01637.x ID - Yu2012 ER - TY - JOUR AU - Macferran, K. M. AU - Buchmann, R. F. AU - Ramakrishnaiah, R. AU - Griebel, M. L. AU - Sanger, W. G. AU - Saronwala, A. AU - Schaefer, G. B. PY - 2010 DA - 2010// TI - Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain JO - Semin Pediatr Neurol VL - 17 UR - https://doi.org/10.1016/j.spen.2010.02.014 DO - 10.1016/j.spen.2010.02.014 ID - Macferran2010 ER - TY - STD TI - Hoang D, Sue GR, Xu F, Li P, Narayan D: Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency.BMJ Case Rep 2013, 2013: Epub 2013/02/27. ID - ref12 ER - TY - JOUR AU - Russell, M. W. AU - Raeker, M. O. AU - Geisler, S. B. AU - Thomas, P. E. AU - Simmons, T. A. AU - Bernat, J. A. AU - Thorsson, T. AU - Innis, J. W. PY - 2014 DA - 2014// TI - Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations JO - Hum Mol Genet VL - 23 UR - https://doi.org/10.1093/hmg/ddu144 DO - 10.1093/hmg/ddu144 ID - Russell2014 ER - TY - JOUR AU - Brau-Javier, C. N. AU - Gonzales-Chavez, J. AU - Toro, J. R. PY - 2012 DA - 2012// TI - Chronic cutaneous pustulosis due to a 175-kb deletion on chromosome 2q13: excellent response to anakinra JO - Arch Dermatol VL - 148 UR - https://doi.org/10.1001/archdermatol.2011.2857 DO - 10.1001/archdermatol.2011.2857 ID - Brau-Javier2012 ER - TY - JOUR AU - Loeber, J. G. PY - 2007 DA - 2007// TI - Neonatal screening in Europe; the situation in 2004 JO - J Inherit Metab Dis VL - 30 UR - https://doi.org/10.1007/s10545-007-0644-5 DO - 10.1007/s10545-007-0644-5 ID - Loeber2007 ER - TY - JOUR AU - Calaciura, F. AU - Miscio, G. AU - Coco, A. AU - Leonardi, D. AU - Cisternino, C. AU - Regalbuto, C. AU - Bozzali, M. AU - Maiorana, R. AU - Ranieri, A. AU - Carta, A. AU - Buscema, M. AU - Trischitta, V. AU - Sava, L. AU - Tassi, V. PY - 2002 DA - 2002// TI - Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach JO - Thyroid VL - 12 UR - https://doi.org/10.1089/105072502320908277 DO - 10.1089/105072502320908277 ID - Calaciura2002 ER - TY - JOUR AU - Park, S. M. AU - Chatterjee, V. K. PY - 2005 DA - 2005// TI - Genetics of congenital hypothyroidism JO - J Med Genet VL - 42 UR - https://doi.org/10.1136/jmg.2004.024158 DO - 10.1136/jmg.2004.024158 ID - Park2005 ER - TY - JOUR AU - Narumi, S. AU - Muroya, K. AU - Asakura, Y. AU - Adachi, M. AU - Hasegawa, T. PY - 2010 DA - 2010// TI - Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients JO - J Clin Endocrinol Metab VL - 95 UR - https://doi.org/10.1210/jc.2009-2373 DO - 10.1210/jc.2009-2373 ID - Narumi2010 ER - TY - JOUR AU - Chi, N. AU - Epstein, J. A. PY - 2002 DA - 2002// TI - Getting your Pax straight: Pax proteins in development and disease JO - Trends Genet VL - 18 UR - https://doi.org/10.1016/S0168-9525(01)02594-X DO - 10.1016/S0168-9525(01)02594-X ID - Chi2002 ER - TY - JOUR AU - Bowen, N. J. AU - Logani, S. AU - Dickerson, E. B. AU - Kapa, L. B. AU - Akhtar, M. AU - Benigno, B. B. AU - McDonald, J. F. PY - 2007 DA - 2007// TI - Emerging roles for PAX8 in ovarian cancer and endosalpingeal development JO - Gynecol Oncol VL - 104 UR - https://doi.org/10.1016/j.ygyno.2006.08.052 DO - 10.1016/j.ygyno.2006.08.052 ID - Bowen2007 ER - TY - JOUR AU - Zannini, M. AU - Francis-Lang, H. AU - Plachov, D. AU - Di Lauro, R. PY - 1992 DA - 1992// TI - Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters JO - Mol Cell Biol VL - 12 ID - Zannini1992 ER - TY - JOUR AU - Ohno, M. AU - Zannini, M. AU - Levy, O. AU - Carrasco, N. AU - di Lauro, R. PY - 1999 DA - 1999// TI - The paired-domain transcription factor Pax8 binds to the upstream enhancer of the rat sodium/iodide symporter gene and participates in both thyroid-specific and cyclic-AMP-dependent transcription JO - Mol Cell Biol VL - 19 ID - Ohno1999 ER - TY - JOUR AU - Di Palma, T. AU - Zampella, E. AU - Filippone, M. G. AU - Macchia, P. E. AU - Ris-Stalpers, C. AU - de Vroede, M. AU - Zannini, M. PY - 2010 DA - 2010// TI - Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism JO - Clin Endocrinol VL - 73 UR - https://doi.org/10.1111/j.1365-2265.2010.03851.x DO - 10.1111/j.1365-2265.2010.03851.x ID - Di Palma2010 ER - TY - JOUR AU - Jo, W. AU - Ishizu, K. AU - Fujieda, K. AU - Tajima, T. PY - 2010 DA - 2010// TI - Congenital hypothyroidism caused by a PAX8 gene mutation manifested as sodium/iodide symporter gene defect JO - J Thyroid Res VL - 2010 UR - https://doi.org/10.4061/2010/619013 DO - 10.4061/2010/619013 ID - Jo2010 ER - TY - JOUR AU - Kreisner, E. AU - Neto, E. C. AU - Gross, J. L. PY - 2005 DA - 2005// TI - High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism JO - Thyroid VL - 15 UR - https://doi.org/10.1089/thy.2005.15.165 DO - 10.1089/thy.2005.15.165 ID - Kreisner2005 ER - TY - JOUR AU - Reddy, P. A. AU - Rajagopal, G. AU - Harinarayan, C. V. AU - Vanaja, V. AU - Rajasekhar, D. AU - Suresh, V. AU - Sachan, A. PY - 2010 DA - 2010// TI - High prevalence of associated birth defects in congenital hypothyroidism JO - Int J Pediatr Endocrinol VL - 2010 UR - https://doi.org/10.1186/1687-9856-2010-940980 DO - 10.1186/1687-9856-2010-940980 ID - Reddy2010 ER - TY - JOUR AU - Carvalho, A. AU - Hermanns, P. AU - Rodrigues, A. L. AU - Sousa, I. AU - Anselmo, J. AU - Bikker, H. AU - Cabral, R. AU - Pereira-Duarte, C. AU - Mota-Vieira, L. AU - Pohlenz, J. PY - 2013 DA - 2013// TI - A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract JO - Thyroid VL - 23 UR - https://doi.org/10.1089/thy.2012.0649 DO - 10.1089/thy.2012.0649 ID - Carvalho2013 ER - TY - JOUR AU - Treier, M. AU - O'Connell, S. AU - Gleiberman, A. AU - Price, J. AU - Szeto, D. P. AU - Burgess, R. AU - Chuang, P. T. AU - McMahon, A. P. AU - Rosenfeld, M. G. PY - 2001 DA - 2001// TI - Hedgehog signaling is required for pituitary gland development JO - Development VL - 128 ID - Treier2001 ER - TY - JOUR AU - Flemming, G. M. AU - Klammt, J. AU - Ambler, G. AU - Bao, Y. AU - Blum, W. F. AU - Cowell, C. AU - Donaghue, K. AU - Howard, N. AU - Kumar, A. AU - Sanchez, J. AU - Stobbe, H. AU - Pfäffle, R. W. PY - 2013 DA - 2013// TI - Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency JO - J Clin Endocrinol Metab VL - 98 UR - https://doi.org/10.1210/jc.2012-3224 DO - 10.1210/jc.2012-3224 ID - Flemming2013 ER - TY - JOUR AU - Ruiz i Altaba, A. AU - Palma, V. AU - Dahmane, N. PY - 2002 DA - 2002// TI - Hedgehog-Gli signalling and the growth of the brain JO - Nat Rev Neurosci VL - 3 UR - https://doi.org/10.1038/nrn704 DO - 10.1038/nrn704 ID - Ruiz i Altaba2002 ER - TY - JOUR AU - Roessler, E. AU - Ermilov, A. N. AU - Grange, D. K. AU - Wang, A. AU - Grachtchouk, M. AU - Dlugosz, A. A. AU - Muenke, M. PY - 2005 DA - 2005// TI - A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2 JO - Hum Mol Genet VL - 14 UR - https://doi.org/10.1093/hmg/ddi222 DO - 10.1093/hmg/ddi222 ID - Roessler2005 ER - TY - JOUR AU - Roessler, E. AU - Du, Y. Z. AU - Mullor, J. L. AU - Casas, E. AU - Allen, W. P. AU - Gillessen-Kaesbach, G. AU - Roeder, E. R. AU - Ming, J. E. AU - Ruiz i Altaba, A. AU - Muenke, M. PY - 2003 DA - 2003// TI - Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features JO - Proc Natl Acad Sci U S A VL - 100 UR - https://doi.org/10.1073/pnas.2235734100 DO - 10.1073/pnas.2235734100 ID - Roessler2003 ER - TY - JOUR AU - Kevelam, S. H. AU - van Harssel, J. J. AU - van der Zwaag, B. AU - Smeets, H. J. AU - Paulussen, A. D. AU - Lichtenbelt, K. D. PY - 2012 DA - 2012// TI - A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2 JO - Am J Med Genet A VL - 158A UR - https://doi.org/10.1002/ajmg.a.34350 DO - 10.1002/ajmg.a.34350 ID - Kevelam2012 ER - TY - JOUR AU - Lafage, M. AU - Maroc, N. AU - Dubreuil, P. AU - de Waal Malefijt, R. AU - Pébusque, M. J. AU - Carcassonne, Y. AU - Mannoni, P. PY - 1989 DA - 1989// TI - The human interleukin-1 alpha gene is located on the long arm of chromosome 2 at band q13 JO - Blood VL - 73 ID - Lafage1989 ER - TY - JOUR AU - Loughlin, J. AU - Dowling, B. AU - Mustafa, Z. AU - Chapman, K. PY - 2002 DA - 2002// TI - Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis JO - Arthritis Rheum VL - 46 UR - https://doi.org/10.1002/art.10260 DO - 10.1002/art.10260 ID - Loughlin2002 ER -