Search Results - "Rosenbaum, Kenneth"

Best Practices in Managing Transition to Adulthood for Adolescents With Congenital Heart Disease: The Transition Process and Medical and Psychosocial Issues: A Scientific Statement From the American Heart Association by SABLE, Craig, FOSTER, Elyse, REID, Graham J, REISS, John G, ROSENBAUM, Kenneth N, SAGERMAN, Paul J, SAIDI, Arwa, SCHONBERG, Rhonda, SHAH, Sangeeta, TONG, Elizabeth, WILLIAMS, Roberta G, UZARK, Karen, BJORNSEN, Katherine, CANOBBIO, Mary M, CONNOLLY, Heidi M, GRAHAM, Thomas P, GURVITZ, Michelle Z, KOVACS, Adrienne, MEADOWS, Alison K

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Preoperative evaluation and comprehensive risk assessment for children with Down syndrome by Lewanda, Amy Feldman, Matisoff, Andrew, Revenis, Mary, Harahsheh, Ashraf, Futterman, Craig, Nino, Gustavo, Greenberg, Jay, Myseros, John S., Rosenbaum, Kenneth N., Summar, Marshall

“…Summary Down syndrome is a common chromosome disorder affecting all body systems. This creates unique physiologic concerns that can affect safety during…”
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Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta by Marini, Joan C, Cabral, Wayne A, Chang, Weizhong, Barnes, Aileen M, Weis, MaryAnn, Scott, Melissa A, Leikin, Sergey, Makareeva, Elena, Kuznetsova, Natalia V, Rosenbaum, Kenneth N, Tifft, Cynthia J, Bulas, Dorothy I, Kozma, Chahira, Smith, Peter A, Eyre, David R

“…A recessive form of severe osteogenesis imperfecta that is not caused by mutations in type I collagen has long been suspected. Mutations in human CRTAP…”
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Handheld optical coherence tomography during sedation in young children with optic pathway gliomas by Avery, Robert A, Hwang, Eugene I, Ishikawa, Hiroshi, Acosta, Maria T, Hutcheson, Kelly A, Santos, Domiciano, Zand, Dina J, Kilburn, Lindsay B, Rosenbaum, Kenneth N, Rood, Brian R, Schuman, Joel S, Packer, Roger J

“…Monitoring young children with optic pathway gliomas (OPGs) for visual deterioration can be difficult owing to age-related noncompliance. Optical coherence…”
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Lovastatin as Treatment for Neurocognitive Deficits in Neurofibromatosis Type 1: Phase I Study by Acosta, Maria T., MD, Kardel, Peter G., MA, Walsh, Karin S., PsyD, Rosenbaum, Kenneth N., MD, Gioia, Gerard A., PhD, Packer, Roger J., MD

“…Abstract In a neurofibromatosis type 1 murine model, treatment with lovastatin reversed cognitive disabilities. We report on a phase I study examining the…”
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Holoprosencephaly due to numeric chromosome abnormalities by Solomon, Benjamin D., Rosenbaum, Kenneth N., Meck, Jeanne M., Muenke, Maximilian

“…Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis…”
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P184: Hypermobility clinic: Innovative workflow supporting patients and provider wellness by Chapman, Kimberly, Vause, Spencer, Berger, Seth, Burkardt, Deepika, Fraser, Jamie, Grant, Christina, Kuperman, KeriAnn, Lewanda, Amy, Mahoney, Darilyn, Pomorski, Gabrielle, Pyle, Louise, Rosenbaum, Kenneth, Quintana, Kiley, Shur, Natasha, Regier, Debra

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations by Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul C.M, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa M.J, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G. Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun-Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme C.M, Biesecker, Leslie G

“…A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To…”
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Further clinical and molecular delineation of the 15q24 microdeletion syndrome by Mefford, Heather C, Rosenfeld, Jill A, Shur, Natasha, Slavotinek, Anne M, Cox, Victoria A, Hennekam, Raoul C, Firth, Helen V, Willatt, Lionel, Wheeler, Patricia, Morrow, Eric M, Cook, Joseph, Sullivan, Rachel, Oh, Albert, McDonald, Marie T, Zonana, Jonathan, Keller, Kory, Hannibal, Mark C, Ball, Susie, Kussmann, Jennifer, Gorski, Jerome, Zelewski, Susan, Banks, Valerie, Smith, Wendy, Smith, Rosemarie, Paull, Lindsay, Rosenbaum, Kenneth N, Amor, David J, Silva, Joao, Lamb, Allen, Eichler, Evan E

“…Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and…”
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Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin by Samango-Sprouse, Carole A, Hamzik, Mary P, Rosenbaum, Kenneth, Khaksari, Kosar, Mitchell, Francie, Kommareddi, Ritika, Brooks, Michaela R, Tipton, Elizabeth, Sadeghin, Teresa, Gropman, Andrea L

“…Pallister-Killian syndrome is an uncommon genetic disorder that has broad developmental and multisystemic effects. While medical complications are widely…”
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Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate by Smpokou, Patroula, Lanpher, Brendan C, Rosenbaum, Kenneth N

“…BACKGROUND:The approach to clinical evaluation of the dysmorphic neonate can be challenging and multifaceted. It requires specialized knowledge of rare…”
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Recovery of Damages for Wrongful Birth by Whitney, Daniel W., Rosenbaum, Kenneth N.

“…A moment of one of life's greatest joys can instantly turn to heartwrenching anguish when a baby is unexpectedly born with severe birth defects. Parents of…”
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Quantitative dysmorphology assessment in Fabry disease by Ries, Markus, Moore, David F., Robinson, Chevalia J., Tifft, Cynthia J., Rosenbaum, Kenneth N., Brady, Roscoe O., Schiffmann, Raphael, Krasnewich, Donna

“…Purpose: 1) To identify morphometric characteristics in hemizygous patients with Fabry disease a treatable lysosomal storage disorder caused by the deficiency…”
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Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study by Porras, Antonio R, Rosenbaum, Kenneth, Tor-Diez, Carlos, Summar, Marshall, Linguraru, Marius George

“…Delays in the diagnosis of genetic syndromes are common, particularly in low and middle-income countries with limited access to genetic screening services. We,…”
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Illegal actions and the forest sector: a legal perspective by Rosenbaum, K.L

“…This paper offers one lawyer's perspective on illegal acts related to forests. In particular, it considers the role of legal reform in addressing these…”
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Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA by Zhao, Qian, Okada, Kazunori, Rosenbaum, Kenneth, Kehoe, Lindsay, Zand, Dina J., Sze, Raymond, Summar, Marshall, Linguraru, Marius George

“…[Display omitted] •Hierarchical constrained local model to locate anatomical landmarks proposed.•Statistical shape models using ICA to describe local shape…”
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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features by Tham, Emma, Lindstrand, Anna, Santani, Avni, Malmgren, Helena, Nesbitt, Addie, Dubbs, Holly A., Zackai, Elaine H., Parker, Michael J., Millan, Francisca, Rosenbaum, Kenneth, Wilson, Golder N., Nordgren, Ann

“…Through a multi-center collaboration study, we here report six individuals from five unrelated families, with mutations in KAT6A/MOZ detected by whole-exome…”
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Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19 by Shur, Natasha, Atabaki, Shireen M., Kisling, Monisha S., Tabarani, Abir, Williams, Clarence, Fraser, Jamie L., Regier, Debra, Summar, Marshall

“…The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID‐19 pandemic. Prior to the 2020 pandemic…”
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A machine learning-based screening tool for genetic syndromes in children – Authors' reply by Porras, Antonio R, Rosenbaum, Kenneth, Tor-Diez, Carlos, Summar, Marshall, Linguraru, Marius George

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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features by Lamb, Allen N., Rosenfeld, Jill A., Neill, Nicholas J., Talkowski, Michael E., Blumenthal, Ian, Girirajan, Santhosh, Keelean-Fuller, Debra, Fan, Zheng, Pouncey, Jill, Stevens, Cathy, Mackay-Loder, Loren, Terespolsky, Deborah, Bader, Patricia I., Rosenbaum, Kenneth, Vallee, Stephanie E., Moeschler, John B., Ladda, Roger, Sell, Susan, Martin, Judith, Ryan, Shawnia, Jones, Marilyn C., Moran, Rocio, Shealy, Amy, Madan-Khetarpal, Suneeta, McConnell, Juliann, Surti, Urvashi, Delahaye, Andrée, Heron-Longe, Bénédicte, Pipiras, Eva, Benzacken, Brigitte, Passemard, Sandrine, Verloes, Alain, Isidor, Bertrand, Le Caignec, Cedric, Glew, Gwen M., Opheim, Kent E., Descartes, Maria, Eichler, Evan E., Morton, Cynthia C., Gusella, James F., Schultz, Roger A., Ballif, Blake C., Shaffer, Lisa G.

“…SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental…”
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