Search Results - "Everman, D B"

LADD syndrome is caused by FGF10 mutations by Milunsky, JM, Zhao, G, Maher, TA, Colby, R, Everman, DB

“…Lacrimo‐auriculo‐dento‐digital syndrome [LADD (MIM 149730)] is an autosomal‐dominant multiple congenital anomaly disorder characterized by aplasia, atresia or…”
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Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome by Zarate, Y.A., Kalsner, L., Basinger, A., Jones, J.R., Li, C., Szybowska, M., Xu, Z.L., Vergano, S., Caffrey, A.R., Gonzalez, C.V., Dubbs, H., Zackai, E., Millan, F., Telegrafi, A., Baskin, B., Person, R., Fish, J.L., Everman, D.B.

“…SATB2‐associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of 12 individuals…”
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Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome by Champion, KJ, Bunag, C, Estep, AL, Jones, JR, Bolt, CH, Rogers, RC, Rauen, KA, Everman, DB

“…Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB. Germline mutation in BRAF codon 600 is compatible with human development:…”
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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities by Hodge, J C, Mitchell, E, Pillalamarri, V, Toler, T L, Bartel, F, Kearney, H M, Zou, Y S, Tan, W H, Hanscom, C, Kirmani, S, Hanson, R R, Skinner, S A, Rogers, R C, Everman, D B, Boyd, E, Tapp, C, Mullegama, S V, Keelean-Fuller, D, Powell, C M, Elsea, S H, Morton, C C, Gusella, J F, DuPont, B, Chaubey, A, Lin, A E, Talkowski, M E

“…Microdeletions of chromosomal region 2q23.1 that disrupt MBD5 (methyl-CpG-binding domain protein 5) contribute to a spectrum of neurodevelopmental phenotypes;…”
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P63 mutations are not a major cause of non-syndromic split hand/foot malformation by de Mollerat, X J, Everman, D B, Morgan, C T, Clarkson, K B, Rogers, R C, Colby, R S, Aylsworth, A S, Graham, J M, Stevenson, R E, Schwartz, C E

“…11 This gene spans 65 kb, contains 15 exons, and encodes six different protein isoforms using alternative splicing and two translational start sites. 22 P63…”
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Genetics of childhood disorders: XII. Genomic imprinting: breaking the rules by Everman, D B, Cassidy, S B

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A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24 by de Mollerat, Xavier J., Gurrieri, Fiorella, Morgan, Chad T., Sangiorgi, Eugenio, Everman, David B., Gaspari, Paola, Amiel, Jeanne, Bamshad, Michael J., Lyle, Robert, Blouin, Jean-Louis, Allanson, Judith E., Le Marec, Bernard, Wilson, Melba, Braverman, Nancy E., Radhakrishna, Uppala, Delozier-Blanchet, Celia, Abbott, Albert, Elghouzzi, Vincent, Antonarakis, Stylianos, Stevenson, Roger E., Munnich, Arnold, Neri, Giovanni, Schwartz, Charles E.

“…Split hand–split foot malformation (SHFM) is characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits. SHFM is usually an…”
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Serum α-fetoprotein levels in Beckwith-Wiedemann syndrome by Everman, David B., Shuman, Cheryl, Dzolganovski, Biljana, O’Riordan, Mary Ann, Weksberg, Rosanna, Robin, Nathaniel H.

“…We conducted a retrospective study that compared serial α-fetoprotein (AFP) concentrations obtained from 22 children with Beckwith-Wiedemann syndrome (BWS)…”
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Hypermobility Syndrome by Everman, David B, Robin, Nathaniel H

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Detection of free radicals during the cellular metabolism of adriamycin by Turner, 3rd, M J, Everman, D B, Ellington, S P, Fields, C E

“…Experiments were conducted to determine which free radicals are generated during the metabolism of adriamycin (ADM) by canine tracheal epithelial (CTE) cells,…”
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Bipolar disorder associated with Klinefelter's syndrome and other chromosomal abnormalities by Everman, D B, Stoudemire, A

“…A patient with bipolar disorder and previously undiagnosed Klinefelter's syndrome presented with acute mania refractory to pharmacotherapy and was successfully…”
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Evidence for superoxide formation during hepatic metabolism of tamoxifen by Turner, 3rd, M J, Fields, C E, Everman, D B

“…Spin trapping of free radicals during the hepatic metabolism of tamoxifen was investigated; the spin trap employed in this study was…”
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DLG4-related synaptopathy: a new rare brain disorder by Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V. A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C. E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A. L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M. B. H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B. A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, Tümer, Zeynep

“…Purpose Postsynaptic density protein-95 (PSD-95), encoded by DLG4 , regulates excitatory synaptic function in the brain. Here we present the clinical and…”
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A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation by BABBS, Christian, HELLER, Raoul, EVERMAN, David B, CROCKER, Mark, TWIGG, Stephen R. F, SCHWARTZ, Charles E, GIELE, Henk, WILKIE, Andrew O. M

“…Split hand/foot malformation (SHFM) with long bone deficiency (SHFLD) is a distinct entity in the spectrum of ectrodactylous limb malformations characterised…”
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Short Report: LADD syndrome is caused by FGF10 mutations by Milunsky, J M, Zhao, G, Maher, T A, Colby, R, Everman, D B

“…Lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] is an autosomal-dominant multiple congenital anomaly disorder characterized by aplasia, atresia or…”
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Microcephaly and Congenital Grouped Pigmentation of the Retinal Pigment Epithelium Associated with Submicroscopic Deletions of 13q33.3-q34 and 11p15.4 by Siddiqui, Ajaz M., Everman, David B., Rogers, R. Curtis, DuPont, Barbara R., Smith, Brooke T., Seaver, Laurie H., Morales, Augusto, Varn, Mary, Cohen, Bruce, Traboulsi, Elias I.

“…Congenital grouped pigmentation of the retinal pigment epithelium (CGPRPE) is a rare ocular abnormality that has been described as an isolated finding or in…”
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Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families by Savarirayan, Ravi, White, Susan M., Goodman, Frances R., Graham Jr, John M., Delatycki, Martin B., Lachman, Ralph S., Rimoin, David L., Everman, David B., Warman, Matthew L.

“…CDMP‐1, a cartilage‐specific member of the TGFß superfamily of secreted signaling molecules, plays a key role in chondrogenesis, growth and patterning of the…”
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The FU gene and its possible protein isoforms by Østerlund, Torben, Everman, David B, Betz, Regina C, Mosca, Monica, Nöthen, Markus M, Schwartz, Charles E, Zaphiropoulos, Peter G, Toftgård, Rune

“…FU is the human homologue of the Drosophila gene fused whose product fused is a positive regulator of the transcription factor Cubitus interruptus (Ci). Thus,…”
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The FU gene and its possible protein isoforms -: art. no. 49 by Osterlund, T, Everman, DB, Betz, RC, Mosca, M, Nöthen, MM, Schwartz, CE, Zaphiropoulos, PG, Toftgård, R

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Respiratory failure requiring extracorporeal membrane oxygenation after sodium phosphate enema intoxication by EVERMAN, David B, NITU, Mara E, JACOBS, Brian R

“…A variety of adverse effects are associated with the use of hypertonic sodium phosphate enemas and laxatives in children. We describe an unusual case of…”
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