13
results
for author:"Pober B."
in Literature Citations
| Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Kantarci S., Al-Gazali L., Hill R.S., Donnai D., Black G.C.M., Bieth E., Chassaing N., Lacombe D., Devriendt K., Teebi A. et al. |
| Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Chen H., von Hehn C., Kaczmarek L.K., Ment L.R., Pober B.R., Hisama F.M. Neurogenetics 8:131-135(2007) · UniProtKB (1) |
| Fog2 is required for normal diaphragm and lung development in mice and humans. Ackerman K.G., Herron B.J., Vargas S.O., Huang H., Tevosian S.G., Kochilas L., Rao C., Pober B.R., Babiuk R.P., Epstein J.A. et al. |
| 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) |
| 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. |
| Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Brown C.A., Lanning R.W., McKinney K.Q., Salvino A.R., Cherniske E., Crowe C.A., Darras B.T., Gominak S., Greenberg C.R., Grosmann C. et al. Am. J. Med. Genet. 102:359-367(2001) · UniProtKB (1) |
| Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Finegold D.N., Kimak M.A., Lawrence E.C., Levinson K.L., Cherniske E.M., Pober B.R., Dunlap J.W., Ferrell R.E. Hum. Mol. Genet. 10:1185-1189(2001) · UniProtKB (1) |
| KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs. Piccini M., Vitelli F., Seri M., Galietta L.J.V., Moran O., Bulfone A., Banfi S., Pober B., Renieri A. |
| 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) |
| Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). Vitelli F., Piccini M., Caroli F., Franco B., Malandrini A., Pober B., Jonsson J., Sorrentino V., Renieri A. Genomics 55:335-340(1999) · UniProtKB (1) |
| FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Piccini M., Vitelli F., Bruttini M., Pober B.R., Jonsson J.J., Villanova M., Zollo M., Borsani G., Ballabio A., Renieri A. Genomics 47:350-358(1998) · UniProtKB (1) |
| Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. Osborne L.R., Soder S., Shi X.-M., Pober B., Costa T., Scherer S.W., Tsui L.-C. Am. J. Hum. Genet. 61:449-452(1997) · UniProtKB (1) |
| Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Osborne L.R., Martindale D.W., Scherer S.W., Shi X.-M., Huizenga J., Heng H.H.Q., Costa T., Pober B., Lew L., Brinkman J. et al. |
