Search Results - "SAAL, Howard M"

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents by Botkin, Jeffrey R., Belmont, John W., Berg, Jonathan S., Berkman, Benjamin E., Bombard, Yvonne, Holm, Ingrid A., Levy, Howard P., Ormond, Kelly E., Saal, Howard M., Spinner, Nancy B., Wilfond, Benjamin S., McInerney, Joseph D.

“…In 1995, the American Society of Human Genetics (ASHG) and American College of Medical Genetics and Genomics (ACMG) jointly published a statement on genetic…”
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Retrospective Study of Obesity in Children with Down Syndrome by Basil, Janet S., MS, Santoro, Stephanie L., MD, Martin, Lisa J., PhD, Healy, Katherine Wusik, MS, Chini, Barbara A., MD, Saal, Howard M., MD

“…Objectives To assess whether children with Down syndrome in the US are at an increased risk for obesity, we determined the obesity prevalence and analyzed…”
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Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1 by Prada, Carlos E., MD, Rangwala, Fatima A., MD, Martin, Lisa J., PhD, Lovell, Anne M., MSN, CNP, Saal, Howard M., MD, Schorry, Elizabeth K., MD, Hopkin, Robert J., MD

“…Objective To characterize morbidity, mortality, and surgical outcomes in pediatric patients with symptomatic plexiform neurofibromas (PNFs). Study design We…”
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The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1 by Prada, Carlos E., MD, Hufnagel, Robert B., MD, PhD, Hummel, Trent R., MD, Lovell, Anne M., MSN, CNP, Hopkin, Robert J., MD, Saal, Howard M., MD, Schorry, Elizabeth K., MD

“…Objective To evaluate the utility of screening brain/orbital magnetic resonance imaging (MRI) in a large population of children with neurofibromatosis type 1…”
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Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome by Lindsley, Andrew W., MD, PhD, Saal, Howard M., MD, Burrow, Thomas A., MD, Hopkin, Robert J., MD, Shchelochkov, Oleg, MD, Khandelwal, Pooja, MD, Xie, Changchun, PhD, Bleesing, Jack, MD, PhD, Filipovich, Lisa, MD, Risma, Kimberly, MD, PhD, Assa'ad, Amal H., MD, Roehrs, Phillip A., MD, Bernstein, Jonathan A., MD

“…Background Kabuki syndrome (KS) is a complex multisystem developmental disorder associated with mutation of genes encoding histone-modifying proteins. In…”
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Acrofacial dysostosis, Cincinnati type: a mandibulofacial dysostosis syndrome with limb anomalies caused by POLR1A dysfunction by Weaver, K. Nicole, Noack Watt, Kristin E., Hufnagel, Robert B., Acedo, Joaquin Navajas, Linscott, Luke L., Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R., Trainor, Paul A., Wieczorek, Dagmar, Saal, Howard M.

“…We report three individuals with a cranioskeletal malformation syndrome we newly define as acrofacial dysostosis, Cincinnati type. Each individual has a…”
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Characterization of tracheobronchomalacia in infants with hypophosphatasia by Padidela, Raja, Yates, Robert, Benscoter, Dan, McPhail, Gary, Chan, Elaine, Nichani, Jaya, Mughal, M. Zulf, Myer, Charles, Narayan, Omendra, Nissenbaum, Claire, Wilkinson, Stuart, Zhou, Shanggen, Saal, Howard M.

“…Abstract Background Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. Effective management…”
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Using human sequencing to guide craniofacial research by Liegel, Ryan P., Finnerty, Erin, Blizzard, Lauren, DiStasio, Andrew, Hufnagel, Robert B., Saal, Howard M., Sund, Kristen L., Prows, Cynthia A., Stottmann, Rolf W.

“…Summary A recent convergence of technological innovations has re‐energized the ability to apply genetics to research in human craniofacial development…”
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Primary Care Providers' Initial Evaluation of Children with Global Developmental Delay: A Clinical Vignette Study by Tarini, Beth A., MD, MS, Zikmund-Fisher, Brian J., PhD, Saal, Howard M., MD, Edmondson, Laurie, MA, Uhlmann, Wendy R., MS

“…Objective To examine the decisions of pediatric primary care physicians about their diagnostic evaluation for a child with suspected global developmental delay…”
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Genetic Evaluation for Craniofacial Conditions by Saal, Howard M., MD

“…There are thousands of craniofacial disorders, each with a different etiology. All cases of orofacial clefts have an underlying genetic cause, ranging from…”
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Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia by Gordon, Christopher T., Weaver, K. Nicole, Zechi-Ceide, Roseli Maria, Madsen, Erik C., Tavares, Andre L.P., Oufadem, Myriam, Kurihara, Yukiko, Adameyko, Igor, Picard, Arnaud, Breton, Sylvain, Pierrot, Sébastien, Biosse-Duplan, Martin, Voisin, Norine, Masson, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Delrue, Marie-Ange, Lacombe, Didier, Guion-Almeida, Maria Leine, Moura, Priscila Padilha, Garib, Daniela Gamba, Munnich, Arnold, Ernfors, Patrik, Hufnagel, Robert B., Hopkin, Robert J., Kurihara, Hiroki, Saal, Howard M., Weaver, David D., Katsanis, Nicholas, Lyonnet, Stanislas, Golzio, Christelle, Clouthier, David E., Amiel, Jeanne

“…The endothelin receptor type A (EDNRA) signaling pathway is essential for the establishment of mandibular identity during development of the first pharyngeal…”
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DiGeorge Anomaly in the Absence of Chromosome 22q11.2 Deletion by Rope, Alan F., MD, Cragun, Deborah L., MS, Saal, Howard M., MD, Hopkin, Robert J., MD

“…Objective To test the hypothesis that the prevalence of deletion 22q11.2 among individuals who meet criteria for DiGeorge anomaly (DGA) is lower than the 90%…”
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Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features by Russell, Bianca E., Rigueur, Diana, Weaver, Kathryn N., Sund, Kristen, Basil, Janet S., Hufnagel, Robert B., Prows, Cynthia A., Oestreich, Alan, Al‐Gazali, Lihadh, Hopkin, Robert J, Saal, Howard M., Lyons, Karen, Dauber, Andrew

“…Background The bone morphogenetic protein (BMP) pathway is known to play an imperative role in bone, cartilage, and cardiac tissue formation. Truncating,…”
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Technical report: ethical and policy issues in genetic testing and screening of children by Ross, Laine Friedman, Saal, Howard M., David, Karen L., Anderson, Rebecca R.

“…The genetic testing and genetic screening of children are commonplace. Decisions about whether to offer genetic testing and screening should be driven by the…”
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Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial by Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos A, Hoover-Fong, Julie, Ullot Font, Rosendo, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kagami, Shoji, Yasui, Natsuo, White, Klane K, Saal, Howard M, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan

“…There are no effective therapies for achondroplasia. An open-label study suggested that vosoritide administration might increase growth velocity in children…”
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Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa by Kishnani, Priya S., Rush, Eric T., Arundel, Paul, Bishop, Nick, Dahir, Kathryn, Fraser, William, Harmatz, Paul, Linglart, Agnès, Munns, Craig F., Nunes, Mark E., Saal, Howard M., Seefried, Lothar, Ozono, Keiichi

“…Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the…”
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Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma by Plancher, Joao McONeil, Hufnagel, Robert B., Vagal, Achala, Peariso, Katrina, Saal, Howard M., Broderick, Joseph P.

“…With this case report, we would like to heighten the awareness of clinicians about COL4A1 as a single-gene disorder causing cerebral small vessel disease and…”
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Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report by Breugem, Corstiaan C, Evans, Kelly N, Poets, Christian F, Suri, Sunjay, Picard, Arnaud, Filip, Charles, Paes, Emma C, Mehendale, Felicity V, Saal, Howard M, Basart, Hanneke, Murthy, Jyotsna, Joosten, Koen F M, Speleman, Lucienne, Collares, Marcus V M, van den Boogaard, Marie-José H, Muradin, Marvick, Andersson, Maud Els-Marie, Kogo, Mikihiko, Farlie, Peter G, Don Griot, Peter, Mossey, Peter A, Slator, Rona, Abadie, Veronique, Hong, Paul

“…Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Currently, no consensus exists…”
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Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study by Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William R., Bacino, Carlos A., Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B., Polgreen, Lynda E., Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kotani, Yumiko, Yasui, Natsuo, White, Klane K., Saal, Howard M., Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M., Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan R. S.

“…Purpose Achondroplasia is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene that lead to impaired endochondral ossification…”
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Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome by Garzon, Jenny P, Patete, Andrea, Aschbacher-Smith, Lindsey, Qu'd, Dima, Kelly-Mancuso, Geraldine, Raski, Carolyn R, Weisman, Allison Goetsch, Hankins, Madison, Sawin, Michael, Kim, Katherine, Drackley, Andy, Zeid, Janice, Weaver, K Nicole, Hopkin, Robert J, Saal, Howard M, Charrow, Joel, Schorry, Elizabeth, Listernick, Robert, Simpson, Brittany N, Prada, Carlos E

“…Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort…”
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