1 - 25 of 77 results for author:"Dobyns W.B." in Literature citations
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| Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Cushion T.D., Dobyns W.B., Mullins J.G., Stoodley N., Chung S.K., Fry A.E., Hehr U., Gunny R., Aylsworth A.S., Prabhakar P. et al. Brain 136:536-548(2013) · Mapped (11) |
| Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: A study of the extensive clinical variability. Bisschoff I.J., Zeschnigk C., Horn D., Wellek B., Riess A., Wessels M., Willems P., Jensen P., Busche A., Bekkebraten J. et al. Hum. Mutat. 34:237-247(2013) · UniProtKB (1) |
| CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Mochida G.H., Ganesh V.S., de Michelena M.I., Dias H., Atabay K.D., Kathrein K.L., Huang H.T., Hill R.S., Felie J.M., Rakiec D. et al. Nat. Genet. 44:1260-1264(2012) · Mapped (14) |
| RTTN mutations link primary cilia function to organization of the human cerebral cortex. Kheradmand Kia S., Verbeek E., Engelen E., Schot R., Poot R.A., de Coo I.F., Lequin M.H., Poulton C.J., Pourfarzad F., Grosveld F.G. et al. Am. J. Hum. Genet. 91:533-540(2012) · UniProtKB (1) |
| De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Riviere J.B., Mirzaa G.M., O'Roak B.J., Beddaoui M., Alcantara D., Conway R.L., St-Onge J., Schwartzentruber J.A., Gripp K.W., Nikkel S.M. et al. |
| ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Willer T., Lee H., Lommel M., Yoshida-Moriguchi T., de Bernabe D.B., Venzke D., Cirak S., Schachter H., Vajsar J., Voit T. et al. |
| De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Riviere J.B., van Bon B.W., Hoischen A., Kholmanskikh S.S., O'Roak B.J., Gilissen C., Gijsen S., Sullivan C.T., Christian S.L., Abdul-Rahman O.A. et al. |
| Phenotypic spectrum associated with CASK loss-of-function mutations. Moog U., Kutsche K., Kortum F., Chilian B., Bierhals T., Apeshiotis N., Balg S., Chassaing N., Coubes C., Das S. et al. J. Med. Genet. 48:741-751(2011) · Mapped (2) |
| Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Osbun N., Li J., O'Driscoll M.C., Strominger Z., Wakahiro M., Rider E., Bukshpun P., Boland E., Spurrell C.H., Schackwitz W. et al. Am. J. Med. Genet. A 155A:1865-1876(2011) · Mapped (5) |
| COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. Labelle-Dumais C., Dilworth D.J., Harrington E.P., de Leau M., Lyons D., Kabaeva Z., Manzini M.C., Dobyns W.B., Walsh C.A., Michele D.E. et al. PLoS Genet. 7:e1002062-e1002062(2011) · Mapped (6) |
| Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Bem D., Yoshimura S., Nunes-Bastos R., Bond F.C., Kurian M.A., Rahman F., Handley M.T., Hadzhiev Y., Masood I., Straatman-Iwanowska A.A. et al. Am. J. Hum. Genet. 88:499-507(2011) · UniProtKB (2) · Mapped (6) |
| The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Kortum F., Das S., Flindt M., Morris-Rosendahl D.J., Stefanova I., Goldstein A., Horn D., Klopocki E., Kluger G., Martin P. et al. J. Med. Genet. 48:396-406(2011) · Mapped (1) |
| Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. Gripp K.W., Hopkins E., Sol-Church K., Stabley D.L., Axelrad M.E., Doyle D., Dobyns W.B., Hudson C., Johnson J., Tenconi R. et al. Am. J. Med. Genet. A 155A:706-716(2011) · Mapped (8) |
| Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Kaufmann R., Straussberg R., Mandel H., Fattal-Valevski A., Ben-Zeev B., Naamati A., Shaag A., Zenvirt S., Konen O., Mimouni-Bloch A. et al. Am. J. Hum. Genet. 87:667-670(2010) · UniProtKB (1) · Mapped (2) |
| WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nicholas A.K., Khurshid M., Desir J., Carvalho O.P., Cox J.J., Thornton G., Kausar R., Ansar M., Ahmad W., Verloes A. et al. Nat. Genet. 42:1010-1014(2010) · UniProtKB (1) · Mapped (15) |
| Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Yu T.W., Mochida G.H., Tischfield D.J., Sgaier S.K., Flores-Sarnat L., Sergi C.M., Topcu M., McDonald M.T., Barry B.J., Felie J.M. et al. |
| Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. O'Driscoll M.C., Daly S.B., Urquhart J.E., Black G.C., Pilz D.T., Brockmann K., McEntagart M., Abdel-Salam G., Zaki M., Wolf N.I. et al. Am. J. Hum. Genet. 87:354-364(2010) · UniProtKB (1) · Mapped (4) |
| SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cantagrel V., Lefeber D.J., Ng B.G., Guan Z., Silhavy J.L., Bielas S.L., Lehle L., Hombauer H., Adamowicz M., Swiezewska E. et al. |
| TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Kumar R.A., Pilz D.T., Babatz T.D., Cushion T.D., Harvey K., Topf M., Yates L., Robb S., Uyanik G., Mancini G.M. et al. Hum. Mol. Genet. 19:2817-2827(2010) · Mapped (5) |
| High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. Gripp K.W., Hopkins E., Doyle D., Dobyns W.B. Am. J. Med. Genet. A 152A:1161-1168(2010) · Mapped (8) |
| Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Iannicelli M., Brancati F., Mougou-Zerelli S., Mazzotta A., Thomas S., Elkhartoufi N., Travaglini L., Gomes C., Ardissino G.L., Bertini E. et al. Hum. Mutat. 31:E1319-31(2010) · Mapped (2) |
| Copy number and sequence variants implicate APBA2 as an autism candidate gene. Babatz T.D., Kumar R.A., Sudi J., Dobyns W.B., Christian S.L. Autism Res 2:359-364(2009) · Mapped (3) |
| Expanding CEP290 mutational spectrum in ciliopathies. Travaglini L., Brancati F., Attie-Bitach T., Audollent S., Bertini E., Kaplan J., Perrault I., Iannicelli M., Mancuso B., Rigoli L. et al. Am. J. Med. Genet. A 149A:2173-2180(2009) · Mapped (4) |
| FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Aldinger K.A., Lehmann O.J., Hudgins L., Chizhikov V.V., Bassuk A.G., Ades L.C., Krantz I.D., Dobyns W.B., Millen K.J. Nat. Genet. 41:1037-1042(2009) · Mapped (86) |
| Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Doherty D., Parisi M.A., Finn L.S., Gunay-Aygun M., Al-Mateen M., Bates D., Clericuzio C., Demir H., Dorschner M., van Essen A.J. et al. |