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  • PMID:17184563 modify Abadir, S., Edouard, T., Julia, S., Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene., Cardiol Young 2007 abstract
  • PMID:12503098 modify Ahmad, N., Richards, A. J., Murfett, H. C., Shapiro, L., Scott, J. D., Yates, J. R., Norton, J., Snead, M. P., Prevalence of mitral valve prolapse in Stickler syndrome., Am J Med Genet A 2003 abstract
  • PMID:16170316 modify Aoki, Y., Niihori, T., Kawame, H., Kurosawa, K., Ohashi, H., Tanaka, Y., Filocamo, M., Kato, K., Suzuki, Y., Kure, S., Matsubara, Y., Germline mutations in HRAS proto-oncogene cause Costello syndrome., Nat Genet 2005 abstract
  • PMID:16615981 modify Aramaki, M., Udaka, T., Kosaki, R., Makita, Y., Okamoto, N., Yoshihashi, H., Oki, H., Nanao, K., Moriyama, N., Oku, S., Hasegawa, T., Takahashi, T., Fukushima, Y., Kawame, H., Kosaki, K., Phenotypic spectrum of CHARGE syndrome with CHD7 mutations., J Pediatr 2006 abstract
  • PMID:16944981 modify Arrington, C. B., Nightengale, D., Lowichik, A., Rosenthal, E. T., Christian-Ritter, K., Viskochil, D. H., Pathologic and molecular analysis in a family with rare mixed supravalvar aortic and pulmonic stenosis., Pediatr Dev Pathol 2006 abstract
  • PMID:16493440 modify Bache I, Hjorth M, Bugge M, Holstebroe S, Hilden J, Schmidt L, Brondum-Nielsen K, Bruun-Petersen G, Jensen PK, Lundsteen C, Niebuhr E, Rasmussen K, Tommerup N., Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases., Eur J Hum Genet 2006 abstract
  • PMID:11062482 modify Bamford RN, Roessler E, Burdine RD, SaplakoÄŸlu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B., Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects., Nat Genet. 2000 abstract
  • PMID:20717171 modify Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, Donnai D, Shalev S., Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3., EJHG 2011 abstract
  • PMID:20799326 modify Banka S, Newman WG, Ozgül RK, Dursun A., Mutations in the G6PC3 gene cause Dursun syndrome., American Journal of Medical Genetics 2010 abstract
  • PMID:18371933 modify Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA., Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort., Am J Hum Genet 2008 abstract
  • PMID:10573006 modify Bartsch O, Wagner A, Hinkel GK, Krebs P, Stumm M, Schmalenberger B, Böhm S, Balci S, Majewski F., FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy., Eur J Hum Genet. 1999 abstract
  • PMID:10077612 modify Basson CT, Huang T, Lin RC, Bachinsky DR, Weremowicz S, Vaglio A, Bruzzone R, Quadrelli R, Lerone M, Romeo G, Silengo M, Pereira A, Krieger J, Mesquita SF, Kamisago M, Morton CC, Pierpont ME, Müller CW, Seidman JG, Seidman CE., Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations., Proc Natl Acad Sci U S A. 1999 abstract
  • PMID:8988165 modify Basson, C. T., Bachinsky, D. R., Lin, R. C., Levi, T., Elkins, J. A., Soults, J., Grayzel, D., Kroumpouzou, E., Traill, T. A., Leblanc-Straceski, J., Renault, B., Kucherlapati, R., Seidman, J. G., Seidman, C. E., Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome., Nat Genet 1997 abstract
  • PMID:20437614 modify Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB., Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis., Hum Mutat 2010 abstract
  • PMID:19352411 modify Beneteau C, Cavé H, Moncla A, Dorison N, Munnich A, Verloes A, Leheup B., SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions., European Journal of Human Genetics 2009 abstract
  • PMID:9610535 modify Benson DW, Sharkey A, Fatkin D, Lang P, Basson CT, McDonough B, Strauss AW, Seidman JG, Seidman CE., Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects., Circulation 1998 full text abstract
  • PMID:10587520 modify Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, Kugler JD., Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways., J Clin Invest. 1999 abstract
  • PMID:18371931 modify Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia., Am J Hum Genet 2008 abstract
  • PMID:18642388 modify Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kim, Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome., Human Mutation 2008 abstract
  • PMID:8010348 modify Bindewald, B., Ulmer, H., Muller, U., Fallot complex, severe mental, and growth retardation: a new autosomal recessive syndrome?, Am J Med Genet 1994 abstract
  • PMID:20071345 modify Bleyl SB, Saijoh Y, Bax NA, Gittenberger-de Groot AC, Wisse LJ, Chapman SC, Hunter J, Shiratori H, Hamada H, Yamada S, Shiota K, Klewer SE, Leppert MF, Schoenwolf GC., Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms., Hum Mol Genet 2010 abstract
  • PMID:17036341 modify Bleyl, S. B., Botto, L. D., Carey, J. C., Young, L. T., Bamshad, M. J., Leppert, M. F., Ward, K., Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12., Am J Med Genet A 2006
  • PMID:16917909 modify Borozdin, W., Bravo Ferrer Acosta, A. M., Bamshad, M. J., Botzenhart, E. M., Froster, U. G., Lemke, J., Schinzel, A., Spranger, S., McGaughran, J., Wand, D., Chrzanowska, K. H., Kohlhase, J., Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations., Hum Mutat 2006 abstract
  • PMID:18412118 modify Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP., The clinical spectrum of homozygous HOXA1 mutations., Am J Med Genet A 2008 abstract
  • PMID:12375192 modify Bossert, T., Walther, T., Gummert, J., Hubald, R., Kostelka, M., Mohr, F. W., Cardiac malformations associated with the Holt-Oram syndrome--report on a family and review of the literature., Thorac Cardiovasc Surg 2002 abstract
  • PMID:12789647 modify Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ., Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype., Am J Hum Genet. 2003 abstract
  • PMID:10373308 modify Bruneau BG, Logan M, Davis N, Levi T, Tabin CJ, Seidman JG, Seidman CE., Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome., Dev Biol. 1999 abstract
  • PMID:18159245 modify Budde BS, Binner P, Waldmüller S, Höhne W, Blankenfeldt W, Hassfeld S, Brömsen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, Müller M, Goody RS, Vosberg HP, Nürnberg P, Scheffold T., Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene., PLoS ONE 2007 abstract
  • PMID:15742365 modify Cecconi, M., Forzano, F., Milani, D., Cavani, S., Baldo, C., Selicorni, A., Pantaleoni, C., Silengo, M., Ferrero, G. B., Scarano, G., Della Monica, M., Fischetto, R., Grammatico, P., Majore, S., Zampino, G., Memo, L., Cordisco, E. L., Neri, G., Pierluigi,, Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth., Am J Med Genet A 2005 abstract
  • PMID:20347099 modify Chen Y, Han ZQ, Yan WD, Tang CZ, Xie JY, Chen H, Hu DY., A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect., J Thorac Cardiovasc Surg. 2010 abstract

    • PMID:1867942 modify Chen, M. R., Rigby, M. L., Redington, A. N., Familial aneurysms of the interventricular septum., Br Heart J 1991 abstract
    • PMID:21544582 modify Cheng Z, Wang J, Su D, Pan H, Huang G, Li X, Li Z, Shen A, Xie X, Wang B, Ma X., Two novel mutations of the IRX4 gene in patients with congenital heart disease., Hum Genet 2011 abstract
    • PMID:17295247 modify Chhin, B., Hatayama, M., Bozon, D., Ogawa, M., Schon, P., Tohmonda, T., Sassolas, F., Aruga, J., Valard, A. G., Chen, S. C., Bouvagnet, P., Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain., Hum Mutat 2007 abstract
    • PMID:15735645 modify Ching, Y. H., Ghosh, T. K., Cross, S. J., Packham, E. A., Honeyman, L., Loughna, S., Robinson, T. E., Dearlove, A. M., Ribas, G., Bonser, A. J., Thomas, N. R., Scotter, A. J., Caves, L. S., Tyrrell, G. P., Newbury-Ecob, R. A., Munnich, A., Bonnet, D., Bro, Mutation in myosin heavy chain 6 causes atrial septal defect., Nat Genet 2005 abstract
    • PMID:1536166 modify Chitayat, D., McIntosh, N., Fouron, J. C., Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: a single gene disorder?, Am J Med Genet 1992 abstract
    • PMID:18273862 modify Cinquetti R, Badi I, Campione M, Bortoletto E, Chiesa G, Parolini C, Camesasca C, Russo A, Taramelli R, Acquati F., Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return., Hum Mutat. 2008 abstract
    • PMID:19966803 modify Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, St, A restricted spectrum of NRAS mutations causes Noonan syndrome., Nature Genetics 2009 abstract
    • PMID:4045962 modify Ciuffo, A. A., Cunningham, E., Traill, T. A., Familial pulmonary valve stenosis, atrial septal defect, and unique electrocardiogram abnormalities., J Med Genet 1985 abstract
    • PMID:14961557 modify Conti, E., Dottorini, T., Sarkozy, A., Tiller, G. E., Esposito, G., Pizzuti, A., Dallapiccola, B., A novel PTPN11 mutation in LEOPARD syndrome., Hum Mutat 2003 abstract
    • PMID:12700609 modify Conti, E., Grifone, N., Sarkozy, A., Tandoi, C., Marino, B., Digilio, M. C., Mingarelli, R., Pizzuti, A., Dallapiccola, B., DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene., Eur J Hum Genet 2003 abstract
    • PMID:19684605 modify Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorn, Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair., Nat genet 2009 abstract
    • PMID:16550171 modify Coucke, P. J., Willaert, A., Wessels, M. W., Callewaert, B., Zoppi, N., De Backer, J., Fox, J. E., Mancini, G. M., Kambouris, M., Gardella, R., Facchetti, F., Willems, P. J., Forsyth, R., Dietz, H. C., Barlati, S., Colombi, M., Loeys, B., De Paepe, A., Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome., Nat Genet 2006 abstract
    • PMID:11183182 modify Cross SJ, Ching YH, Li QY, Armstrong-Buisseret L, Spranger S, Lyonnet S, Bonnet D, Penttinen M, Jonveaux P, Leheup B, Mortier G, Van Ravenswaaij C, Gardiner CA., The mutation spectrum in Holt-Oram syndrome., J Med Genet 2000 full text
    • PMID:20854389 modify D'Amato E, Giacopelli F, Giannattasio A, D'Annunzio G, Bocciardi R, Musso M, Lorini R, Ravazzolo R., Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis., Diabet Med 2010 abstract

      • PMID:11470490 modify Dasgupta, C., Martinez, A. M., Zuppan, C. W., Shah, M. M., Bailey, L. L., Fletcher, W. H., Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)., Mutat Res 2001 abstract
      • PMID:17203459 modify Dastot-Le Moal, F., Wilson, M., Mowat, D., Collot, N., Niel, F., Goossens, M., ZFHX1B mutations in patients with Mowat-Wilson syndrome., Hum Mutat 2007 abstract
      • PMID:12833403 modify De Falco, F., Cainarca, S., Andolfi, G., Ferrentino, R., Berti, C., Rodriguez Criado, G., Rittinger, O., Dennis, N., Odent, S., Rastogi, A., Liebelt, J., Chitayat, D., Winter, R., Jawanda, H., Ballabio, A., Franco, B., Meroni, G., X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum., Am J Med Genet A 2003 abstract
      • PMID:19933292 modify De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML, Mingarelli R, Bellacchio E, Tuo G, Limongelli G, Digilio MC, Marino B, Dallapiccola B., Familial transposition of the great arteries caused by multiple mutations in laterality genes., Heart 2010 abstract
      • PMID:20807224 modify De Luca A, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici ML, Vergara P, De Zorzi A, Versacci P, Digilio MC, Marino B, Dallapiccola B., New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle., Clin Genet 2010 abstract
      • PMID:20730588 modify de Wit MC, de Coo IF, Lequin MH, Halley DJ, Roos-Hesselink JW, Mancini GM., Combined cardiological and neurological abnormalities due to filamin A gene mutation., Clin Res Cardiol 2011 abstract

        • PMID:16376438 modify Dias, R. R., Albuquerque, J. M., Pereira, A. C., Stolf, N. A., Krieger, J. E., Mady, C., Oliveira, S. A., Holt-Oram syndrome presenting as agenesis of the left pericardium., Int J Cardiol 2007 abstract
        • PMID:7377161 modify DiChiara, J. A., Pieroni, D. R., Gingell, R. L., Bannerman, R. M., Vlad, P., Familial pulmonary atresia. Its occurrence with a ventricular septal defect., Am J Dis Child 1980 abstract
        • PMID:10521289 modify Disse S, Abergel E, Berrebi A, Houot AM, Le Heuzey JY, Diebold B, Guize L, Carpentier A, Corvol P, Jeunemaitre X., Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1., Am J Hum Genet. 1999 abstract
        • PMID:12372254 modify Donovan, J., Kordylewska, A., Jan, Y. N., Utset, M. F., Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice., Curr Biol 2002 abstract
        • PMID:17163528 modify Drera, B., Guala, A., Zoppi, N., Gardella, R., Franceschini, P., Barlati, S., Colombi, M., Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome., Am J Med Genet A 2007
        • PMID:11152664 modify Eldadah, Z. A., Hamosh, A., Biery, N. J., Montgomery, R. A., Duke, M., Elkins, R., Dietz, H. C., Familial Tetralogy of Fallot caused by mutation in the jagged1 gene., Hum Mol Genet 2001 abstract
        • PMID:12798584 modify Elliott, D. A., Kirk, E. P., Yeoh, T., Chandar, S., McKenzie, F., Taylor, P., Grossfeld, P., Fatkin, D., Jones, O., Hayes, P., Feneley, M., Harvey, R. P., Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome., J Am Coll Cardiol 2003 abstract
        • PMID:8475063 modify Ewart, A. K., Morris, C. A., Ensing, G. J., Loker, J., Moore, C., Leppert, M., Keating, M., A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7., Proc Natl Acad Sci U S A 1993 abstract
        • PMID:17701892 modify Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson , Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study., Am J Hum Genet. 2007 abstract
        • PMID:12624158 modify Fan C, Duhagon MA, Oberti C, Chen S, Hiroi Y, Komuro I, Duhagon PI, Canessa R, Wang Q., Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome., J Med Genet. 2003
        • PMID:18374296 modify Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC., FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality., Am J Hum Genet. 2008 abstract
        • PMID:17309641 modify Finelli P, Pincelli AI, Russo S, Bonati MT, Recalcati MP, Masciadri M, Giardino D, Cavagnini F, Larizza L., Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis., Clin Genet 2007 abstract
        • PMID:15389319 modify Fischer, A., Klamt, B., Schumacher, N., Glaeser, C., Hansmann, I., Fenge, H., Gessler, M., Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome., Mamm Genome 2004 abstract
        • PMID:9883725 modify Fox, J. W., Lamperti, E. D., Eksioglu, Y. Z., Hong, S. E., Feng, Y., Graham, D. A., Scheffer, I. E., Dobyns, W. B., Hirsch, B. A., Radtke, R. A., Berkovic, S. F., Huttenlocher, P. R., Walsh, C. A., Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia., Neuron 1998 abstract
        • PMID:12707861 modify Freed, L. A., Acierno, J. S. Jr, Dai, D., Leyne, M., Marshall, J. E., Nesta, F., Levine, R. A., Slaugenhaupt, S. A., A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4., Am J Hum Genet 2003 abstract
        • PMID:17653043 modify Fuse N, Takahashi K, Yokokura S, Nishida K., Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome., Mol Vis. 2007 abstract
        • PMID:16601454 modify Garg, V., Molecular genetics of aortic valve disease., Curr Opin Cardiol 2006 abstract
        • PMID:12845333 modify Garg, V., Kathiriya, I. S., Barnes, R., Schluterman, M. K., King, I. N., Butler, C. A., Rothrock, C. R., Eapen, R. S., Hirayama-Yamada, K., Joo, K., Matsuoka, R., Cohen, J. C., Srivastava, D., GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5., Nature 2003 abstract
        • PMID:16025100 modify Garg, V., Muth, A. N., Ransom, J. F., Schluterman, M. K., Barnes, R., King, I. N., Grossfeld, P. D., Srivastava, D., Mutations in NOTCH1 cause aortic valve disease., Nature 2005 abstract
        • PMID:11155425 modify George, E., DeSilva, S., Lieber, E., Raziuddin, K., Gudavalli, M., Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating., J Perinat Med 2000 abstract
        • PMID:19471316 modify Gill HK, Parsons SR, Spalluto C, Davies AF, Knorz VJ, Burlinson CE, Ng BL, Carter NP, Ogilvie CM, Wilson DI, Roberts RG., Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart., EJHG 2009 abstract
        • PMID:11799476 modify Goldmuntz, E., Bamford, R., Karkera, J. D., dela Cruz, J., Roessler, E., Muenke, M., CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle., Am J Hum Genet 2002 abstract
        • PMID:11714651 modify Goldmuntz, E., Geiger, E., Benson, D. W., NKX2.5 mutations in patients with tetralogy of fallot., Circulation 2001 abstract
        • PMID:20656787 modify Granados-Riveron JT, Ghosh TK, Pope M, Bu'Lock F, Thornborough C, Eason J, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Armour JA, David Brook J., Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects., Hum Mol Genet 2010 abstract
        • PMID:20937753 modify Griffin HR, Töpf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA., Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants., Heart 2010 abstract

          • PMID:12818525 modify Gruenauer-Kloevekorn, C., Froster, U. G., Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families., Ann Genet 2003 abstract
          • PMID:21154628 modify Gurrieri F, Pomponi MG, Pietrobono R, Lucci-Cordisco E, Silvestri E, Storniello G, Neri G., The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story., American Journal of Medical Genetics 2010 abstract
          • PMID:16896344 modify Gutierrez-Roelens I, De Roy L, Ovaert C, Sluysmans T, Devriendt K, Brunner HG, Vikkula M., A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?, Eur J Hum Genet. 2006 abstract
          • PMID:12112663 modify Gutierrez-Roelens I, Sluysmans T, Gewillig M, Devriendt K, Vikkula M., Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene., Hum Mutat. 2002 abstract
          • PMID:3415298 modify Hallidie-Smith, K. A., Karas, S., Cardiac anomalies in Williams-Beuren syndrome., Arch Dis Child 1988 abstract
          • PMID:15649947 modify Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ, Syrris P., Common arterial trunk associated with a homeodomain mutation of NKX2.6., Hum Mol Genet 2005 abstract
          • PMID:15710732 modify Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG., Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome., Heart 2005
          • PMID:18319076 modify Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas R, Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project., Am J Hum Genet 2008 abstract
          • PMID:19367324 modify Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitou, BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects., Eur J Hum Genet 2009 abstract
          • PMID:19298921 modify Hinton RB, Martin LJ, Rame-Gowda S, Tabangin ME, Cripe LH, Benson DW., Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve., J Am Coll Cardiol 2009 abstract

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