BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital bud

Por Lehoczky, Jessica A., Innis, Jeffrey W.
Publicado em 2008

Expanded HOXA13 Polyalanine Tracts in the Monotreme

Por Lehoczky, Jessica A., Innis, Jeffrey W.
Publicado em 2008

A genomic approach to the identification and characterization of HOXA13 functional binding elements

Por McCabe, Colleen D., Innis, Jeffrey W.
Publicado em 2005

Identification and prevention of a GC content bias in SAGE libraries

Por Margulies, Elliott H., Kardia, Sharon L. R., Innis, Jeffrey W.
Publicado em 2001

A Comparative Molecular Analysis of Developing Mouse Forelimbs and Hindlimbs Using Serial Analysis of Gene Expression (SAGE)

Por Margulies, Elliott H., Kardia, Sharon L.R., Innis, Jeffrey W.
Publicado em 2001

A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease

Por Dagenais, Susan L., Adam, Ayla N., Innis, Jeffrey W., Glover, Thomas W.
Publicado em 2001

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

Por Tayeh, Marwan K, Rocco, Tracy, Ackley, Todd, Ernst, Leslie, Glover, Thomas, Innis, Jeffrey W
Publicado no Clin Case Rep (2015)

Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability

Por Williams, Thomas M., Williams, Melissa E., Heaton, Joanne H., Gelehrter, Thomas D., Innis, Jeffrey W.
Publicado em 2005

A Complex 6p25 Rearrangement in a Child With Multiple Epiphyseal Dysplasia

Por Bedoyan, Jirair K., Lesperance, Marci M., Ackley, Todd, Iyer, Ramaswamy K., Innis, Jeffrey W., Misra, Vinod K.
Publicado no Am J Med Genet A (2010)

Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With...

Por DeScipio, Cheryl, Kaur, Maninder, Yaeger, Dinah, Innis, Jeffrey W., Spinner, Nancy B., Jackson, Laird G., Krantz, Ian D.
Publicado no Am J Med Genet A (2005)

Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin...

Por Butler, Matthew G., Dagenais, Susan L., Garcia-Perez, José L., Brouillard, Pascal, Vikkula, Miikka, Strouse, Peter, Innis, Jeffrey W., Glover, Thomas W.
Publicado em 2012

Exome Capture and Massively Parallel Sequencing Identifies a Novel HPSE2 Mutation in a Saudi Arabian Child with Ochoa (Urofacial) Syndrome

Por Al Badr, Wisam, Al Bader, Suha, Otto, Edgar, Hildebrandt, Friedhelm, Ackley, Todd, Peng, Weiping, Xu, Jishu, Li, Jun, Owens, Kailey M., Bloom, David, Innis, Jeffrey W.
Publicado em 2011

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

Por Saisawat, Pawaree, Tasic, Velibor, Vega-Warner, Virginia, Kehinde, Elijah O., Günther, Barbara, Airik, Rannar, Innis, Jeffrey W., Hoskins, Bethan E., Hoefele, Julia, Otto, Edgar A., Hildebrandt, Friedhelm
Publicado em 2011

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

Por Paznekas, William A., Boyadjiev, Simeon A., Shapiro, Robert E., Daniels, Otto, Wollnik, Bernd, Keegan, Catherine E., Innis, Jeffrey W., Dinulos, Mary Beth, Christian, Cathy, Hannibal, Mark C., Jabs, Ethylin Wang
Publicado em 2003

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

Por Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.
Publicado em 2011

Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

Por Goodman, Frances R., Bacchelli, Chiara, Brady, Angela F., Brueton, Louise A., Fryns, Jean-Pierre, Mortlock, Douglas P., Innis, Jeffrey W., Holmes, Lewis B., Donnenfeld, Alan E., Feingold, Murray, Beemer, Frits A., Hennekam, Raoul C. M., Scambler, Peter J.
Publicado em 2000

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Por Celli, Jacopo, van Beusekom, Ellen, Hennekam, Raoul C. M., Gallardo, M. Esther, Smeets, Dominique F. C. M., de Córdoba, Santiago Rodríguez, Innis, Jeffrey W., Frydman, Moshe, König, Rainer, Kingston, Helen, Tolmie, John, Govaerts, Lutgarde C. P., van Bokhoven, Hans, Brunner, Han G.
Publicado em 2000

Spectrum of Disease Associated with Partial Lipodystrophy (PL): Lessons from a Trial Cohort

Por Ajluni, Nevin, Meral, Rasimcan, Neidert, Adam H., Brady, Graham F., Buras, Eric, McKenna, Barbara, DiPaola, Frank, Chenevert, Thomas L., Horowitz, Jeffrey F., Buggs-Saxton, Colleen, Rupani, Amit R., Thomas, Peedikayil E., Tayeh, Marwan K., Innis, Jeffrey W., Omary, M. Bishr, Conjeevaram, Hari, Oral, Elif A.
Publicado no Clin Endocrinol (Oxf) (2017)

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

Por Gee, Heon Yung, Zhang, Fujian, Ashraf, Shazia, Kohl, Stefan, Sadowski, Carolin E., Vega-Warner, Virginia, Zhou, Weibin, Lovric, Svjetlana, Fang, Humphrey, Nettleton, Margaret, Zhu, Jun-yi, Hoefele, Julia, Weber, Lutz T., Podracka, Ludmila, Boor, Andrej, Fehrenbach, Henry, Innis, Jeffrey W., Washburn, Joseph, Levy, Shawn, Lifton, Richard P., Otto, Edgar A., Han, Zhe, Hildebrandt, Friedhelm
Publicado no J Clin Invest (2015)

A Novel Intergenic ETnII-β Insertion Mutation Causes Multiple Malformations in Polypodia Mice

Por Lehoczky, Jessica A., Thomas, Peedikayil E., Patrie, Kevin M., Owens, Kailey M., Villarreal, Lisa M., Galbraith, Kenneth, Washburn, Joe, Johnson, Craig N., Gavino, Bryant, Borowsky, Alexander D., Millen, Kathleen J., Wakenight, Paul, Law, William, Van Keuren, Margaret L., Gavrilina, Galina, Hughes, Elizabeth D., Saunders, Thomas L., Brihn, Lesil, Nadeau, Joseph H., Innis, Jeffrey W.
Publicado em 2013