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for author:"Zackai E.H."
in Literature Citations
| Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., Ou Z., Wiszniewska J., Driscoll D.J., Maisenbacher M.K. et al. Am. J. Hum. Genet. 84:780-791(2009) · Mapped (1) |
| Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Lacbawan F., Solomon B.D., Roessler E., El-Jaick K., Domene S., Velez J.I., Zhou N., Hadley D., Balog J.Z., Long R. et al. J. Med. Genet. 46:389-398(2009) · Mapped (4) |
| CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Gorden N.T., Arts H.H., Parisi M.A., Coene K.L.M., Letteboer S.J.F., van Beersum S.E.C., Mans D.A., Hikida A., Eckert M., Knutzen D. et al. Am. J. Hum. Genet. 83:559-571(2008) · UniProtKB (2) · Mapped (5) |
| Additional EFNB1 mutations in craniofrontonasal syndrome. Wallis D., Lacbawan F., Jain M., Der Kaloustian V.M., Steiner C.E., Moeschler J.B., Losken H.W., Kaitila I.I., Cantrell S., Proud V.K. et al. Am. J. Med. Genet. A 146A:2008-2012(2008) · Mapped (1) |
| Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Doherty E.S., Lacbawan F., Hadley D.W., Brewer C., Zalewski C., Kim H.J., Solomon B., Rosenbaum K., Domingo D.L., Hart T.C. et al. Am. J. Med. Genet. A 143A:3204-3215(2007) · Mapped (10) |
| Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine Syndrome), highlighting a crucial molecule in bone development. Simpson M.A., Hsu R., Keir L.S., Hao J., Sivapalan G., Ernst L.M., Zackai E.H., Al-Gazali L.I., Hulskamp G., Kingston H.M. et al. Am. J. Hum. Genet. 81:906-912(2007) · UniProtKB (1) · Mapped (1) |
| Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations. Jadico S.K., Young D.A., Huebner A., Edmond J.C., Pollock A.N., McDonald-McGinn D.M., Li Y.J., Zackai E.H., Young T.L. J AAPOS 10:521-527(2006) · Mapped (12) |
| Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. Jadico S.K., Huebner A., McDonald-McGinn D.M., Zackai E.H., Young T.L. J AAPOS 10:435-444(2006) · Mapped (11) |
| HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Gripp K.W., Lin A.E., Stabley D.L., Nicholson L., Scott C.I. Jr., Doyle D., Aoki Y., Matsubara Y., Zackai E.H., Lapunzina P. et al. Am. J. Med. Genet. A 140:1-7(2006) · UniProtKB (1) |
| Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Johnston J.J., Olivos-Glander I., Killoran C., Elson E., Turner J.T., Peters K.F., Abbott M.H., Aughton D.J., Aylsworth A.S., Bamshad M.J. et al. Am. J. Hum. Genet. 76:609-622(2005) · Mapped (2) |
| Molecular analysis of congenital scoliosis: a candidate gene approach. Maisenbacher M.K., Han J.S., O'brien M.L., Tracy M.R., Erol B., Schaffer A.A., Dormans J.P., Zackai E.H., Kusumi K. Hum. Genet. 116:416-419(2005) · Mapped (2) |
| Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Kato M., Das S., Petras K., Kitamura K., Morohashi K., Abuelo D.N., Barr M., Bonneau D., Brady A.F., Carpenter N.J. et al. Hum. Mutat. 23:147-159(2004) · UniProtKB (1) |
| Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery. Gaynor J.W., Gerdes M., Zackai E.H., Bernbaum J., Wernovsky G., Clancy R.R., Newman M.F., Saunders A.M., Heagerty P.J., D'Agostino J.A. et al. J. Thorac. Cardiovasc. Surg. 126:1736-1745(2003) · Mapped (6) |
| Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. Wang L.L., Gannavarapu A., Kozinetz C.A., Levy M.L., Lewis R.A., Chintagumpala M.M., Ruiz-Maldanado R., Contreras-Ruiz J., Cunniff C., Erickson R.P. et al. J. Natl. Cancer Inst. 95:669-674(2003) · Mapped (1) |
| Human chromosome 7: DNA sequence and biology. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al. Science 300:767-772(2003) · UniProtKB (658) |
| Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Ion A., Tartaglia M., Song X., Kalidas K., van der Burgt I., Shaw A.C., Ming J.E., Zampino G., Zackai E.H., Dean J.C. et al. Hum. Genet. 111:421-427(2002) · Mapped (6) |
| Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Kondo S., Schutte B.C., Richardson R.J., Bjork B.C., Knight A.S., Watanabe Y., Howard E., de Lima R.L.L., Daack-Hirsch S., Sander A. et al. |
| Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Kan S.-H., Elanko N., Johnson D., Cornejo-Roldan L.R., Cook J., Reich E.W., Tomkins S., Verloes A., Twigg S.R.F., Rannan-Eliya S. et al. Am. J. Hum. Genet. 70:472-486(2002) · UniProtKB (1) · Mapped (11) |
| Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. Gong W., Gottlieb S., Collins J., Blescia A., Dietz H., Goldmuntz E., McDonald-McGinn D.M., Zackai E.H., Emanuel B.S., Driscoll D.A. et al. J. Med. Genet. 38:E45-E45(2001) · Mapped (4) |
| Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Gripp K.W., Wotton D., Edwards M.C., Roessler E., Ades L., Meinecke P., Richieri-Costa A., Zackai E.H., Massague J., Muenke M. et al. Nat. Genet. 25:205-208(2000) · UniProtKB (1) |
| PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Marsh D.J., Kum J.B., Lunetta K.L., Bennett M.J., Gorlin R.J., Ahmed S.F., Bodurtha J., Crowe C., Curtis M.A., Dasouki M. et al. Hum. Mol. Genet. 8:1461-1472(1999) · UniProtKB (1) |
| Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Wallis D.E., Roessler E., Hehr U., Nanni L., Wiltshire T., Richieri-Costa A., Gillessen-Kaesbach G., Zackai E.H., Rommens J., Muenke M. Nat. Genet. 22:196-198(1999) · UniProtKB (1) |
| Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. Gecz J., Baker E., Donnelly A., Ming J.E., McDonnald-McGinn D.M., Spinner N.B., Zackai E.H., Sutherland G.R., Mulley J.C. Hum. Genet. 104:56-63(1999) · UniProtKB (1) |
| A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Muenke M., Gripp K.W., McDonald-Mcginn D.M., Gaudenz K., Whitaker L.A., Bartlett S.P., Markowitz R.I., Robin N.H., Nwokoro N., Mulvihill J.J. et al. Am. J. Hum. Genet. 60:555-564(1997) · UniProtKB (1) |
| Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Oldridge M., Lunt P.W., Zackai E.H., McDonald-Mcginn D.M., Muenke M., Moloney D.M., Twigg S.R.F., Heath J.K., Howard T.D., Hoganson G. et al. Hum. Mol. Genet. 6:137-143(1997) · UniProtKB (1) |
