Search Results - "Stevens, Cathy A."

Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region by Strehle, Eugen-Matthias, Yu, Linbo, Rosenfeld, Jill A., Donkervoort, Sandra, Zhou, Yulin, Chen, Tian-Jian, Martinez, Jose E., Fan, Yao-Shan, Barbouth, Deborah, Zhu, Hongbo, Vaglio, Alicia, Smith, Rosemarie, Stevens, Cathy A., Curry, Cynthia J., Ladda, Roger L., Fan, Zheng (Jane), Fox, Joyce E., Martin, Judith A., Abdel-Hamid, Hoda Z., McCracken, Elizabeth A., McGillivray, Barbara C., Masser-Frye, Diane, Huang, Taosheng

“…Chromosome 4q deletion syndrome (4q‐ syndrome) is a rare condition, with an estimated incidence of 1 in 100,000. Although variable, the clinical spectrum…”
Get full text

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency by Rope, Alan F., Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J., Swensen, Jeffrey J., Johnson, W. Evan, Moore, Barry, Huff, Chad D., Bird, Lynne M., Carey, John C., Opitz, John M., Stevens, Cathy A., Jiang, Tao, Schank, Christa, Fain, Heidi Deborah, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T., Pysher, Theodore J., Jorde, Lynn B., Hakonarson, Hakon, Lillehaug, Johan R., Biesecker, Leslie G., Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J.

“…We have identified two families with a previously undescribed lethal X-linked disorder of infancy; the disorder comprises a distinct combination of an aged…”
Get full text

Steinfeld syndrome: Further delineation by Stevens, Cathy A.

“…Steinfeld syndrome, which was first reported in 1982, is characterized by holoprosencephaly, phocomelia, clefting, congenital heart defects, and other…”
Get full text

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation by Robin, Nathaniel H., Taylor, Clare J., McDonald-McGinn, Donna M., Zackai, Elaine H., Bingham, Peter, Collins, Kevin J., Earl, Dawn, Gill, Deepak, Granata, Tiziana, Guerrini, Renzo, Katz, Naomi, Kimonis, Virginia, Lin, Jean-Pierre, Lynch, David R., Mohammed, Shehla N., Massey, Roger F., McDonald, Marie, Rogers, R. Curtis, Splitt, Miranda, Stevens, Cathy A., Tischkowitz, Marc D., Stoodley, Neil, Leventer, Richard J, Pilz, Daniela T., Dobyns, William B.

“…Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of the corpus callosum,…”
Get full text

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses by Smith, Erica D., Blanco, Kirsten, Sajan, Samin A., Hunter, Jesse M., Shinde, Deepali N., Wayburn, Bess, Rossi, Mari, Huang, Jennifer, Stevens, Cathy A., Muss, Candace, Alcaraz, Wendy, Hagman, Kelly D. Farwell, Tang, Sha, Radtke, Kelly

“…Purpose We evaluated clinical and genetic features enriched in patients with multiple Mendelian conditions to determine which patients are more likely to have…”
Get full text

A dyadic approach to the delineation of diagnostic entities in clinical genomics by Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

“…The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases…”
Get full text

Rubinstein-Taybi syndrome medical guidelines by Wiley, Susan, Swayne, Susan, Rubinstein, Jack H., Lanphear, Nancy E., Stevens, Cathy A.

“…Children and adults with Rubinstein‐Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the…”
Get full text

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting by Stevens, Cathy A., Krantz, Ian

“…The 38th Annual David W. Smith Workshop on Malformations and Morphogenesis occurred on August 26th – 29th, 2017 at the Stoweflake Resort and Conference Center…”
Get full text

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders by El Ghaleb, Yousra, Schneeberger, Pauline E, Fernández-Quintero, Monica L, Geisler, Stefanie M, Pelizzari, Simone, Polstra, Abeltje M, van Hagen, Johanna M, Denecke, Jonas, Campiglio, Marta, Liedl, Klaus R, Stevens, Cathy A, Person, Richard E, Rentas, Stefan, Marsh, Eric D, Conlin, Laura K, Tuluc, Petronel, Kutsche, Kerstin, Flucher, Bernhard E

“…T-type calcium channels (Cav3.1 to Cav3.3) regulate low-threshold calcium spikes, burst firing and rhythmic oscillations of neurons and are involved in sensory…”
Get full text

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency by Rope, Alan F., Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J., Swensen, Jeffrey J., Johnson, W. Evan, Moore, Barry, Huff, Chad D., Bird, Lynne M., Carey, John C., Opitz, John M., Stevens, Cathy A., Jiang, Tao, Schank, Christa, Fain, Heidi Deborah, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T., Pysher, Theodore J., Jorde, Lynn B., Hakonarson, Hakon, Lillehaug, Johan R., Biesecker, Leslie G., Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J.

Get full text

Intestinal malrotation in Rubinstein-Taybi syndrome by Stevens, Cathy A.

“…Rubinstein–Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome which may include malformations of the central nervous system, heart, genitourinary…”
Get full text

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism by Daoud, Hussein, Tétreault, Martine, Gibson, William, Guerrero, Kether, Cohen, Ana, Gburek-Augustat, Janina, Synofzik, Matthis, Brais, Bernard, Stevens, Cathy A, Sanchez-Carpintero, Rocio, Goizet, Cyril, Naidu, Sakkubai, Vanderver, Adeline, Bernard, Geneviève

“…Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterised by abnormal central nervous system white matter. Mutations in…”
Get more information

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 ( TWSG1) gene in human holoprosencephaly by Kauvar, Emily F., Hu, Ping, Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Dutra, Amalia, Pak, Evgenia, Blessing, Brooke, Proud, Virginia, Shanske, Alan L., Stevens, Cathy A., Rosenfeld, Jill A., Shaffer, Lisa G., Roessler, Erich, Muenke, Maximilian

“…Holoprosencephaly (HPE) is the most common disorder of human forebrain and facial development. Presently understood etiologies include both genetic and…”
Get full text

Genetic evaluation including exome sequencing of two patients with Gomez‐Lopez‐Hernandez syndrome: Case reports and review of the literature by Lindsay, Faith, Anderson, Ilse, Wentzensen, Ingrid M., Suhrbier, David, Stevens, Cathy A.

“…Rhombencephalosynapsis (RES) is a rare congenital anomaly of the hindbrain characterized by fusion of the cerebellar hemispheres, cerebellar peduncles, and…”
Get full text

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C by Pelletier, Félixe, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Kauffman, Marcelo, Kluger, Gerhard, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Sønderberg Roos, Laura K, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Bernard, Geneviève

“…Abstract Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and…”
Get full text

Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P]) by Ward, Scott K., Stevens, Cathy A., Keates-Baleeiro, Jennifer, Bhakta, Manoo

“…Phosphoglycerate kinase (PGK) is glycolytic enzyme critical in the creation of adenosine triphosphate. Mutations in the gene for this enzyme, PGK1, are…”
Get full text

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions by Verscaj, Courtney P, Velez-Bartolomei, Frances, Bodle, Ethan, Chan, Katie, Lyons, Michael J, Thorson, Willa, Tan, Wen-Hann, Rodig, Nancy, Graham, Jr, John M, Peron, Angela, Quintero-Rivera, Fabiola, Zackai, Elaine H, Thomas, Mary Ann, Stevens, Cathy A, Adam, Margaret P, Bird, Lynne M, Jones, Marilyn C, Matalon, Dena R

“…Recurrent deletions involving 17q12 are associated with a variety of clinical phenotypes, including congenital abnormalities of the kidney and urinary tract…”
Get full text

Adults with Rubinstein–Taybi syndrome by Stevens, Cathy A., Pouncey, Jill, Knowles, Darcy

“…Information in the medical literature regarding adults with genetic syndromes is limited, making the care of these patients challenging. We conducted a…”
Get full text

A Homozygous RET K666N Genotype With an MEN2A Phenotype by Jaber, Tania, Hyde, Samuel M, Cote, Gilbert J, Grubbs, Elizabeth G, Giles, Wesley H, Stevens, Cathy A, Dadu, Ramona

“…Abstract Context Germline RET K666N mutation has been described as a pathogenic mutation with low disease penetrance for medullary thyroid cancer (MTC) without…”
Get full text

Deletion upstream of SALL1 producing Townes-Brocks syndrome by Stevens, Cathy A., May, Kristin M.

Get full text