Search Results - "Hopkin, Robert J."

Fabry's disease by Zarate, Yuri A, MD, Hopkin, Robert J, Dr

“…Summary Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A…”
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The genetic landscape of familial congenital hydrocephalus by Shaheen, Ranad, Sebai, Mohammed Adeeb, Patel, Nisha, Ewida, Nour, Kurdi, Wesam, Altweijri, Ikhlass, Sogaty, Sameera, Almardawi, Elham, Seidahmed, Mohammed Zain, Alnemri, Abdulrahman, Madirevula, Sateesh, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Sallout, Bahauddin, AlBaqawi, Badi, AlAali, Wajeih, Ajaji, Nouf, Lesmana, Harry, Hopkin, Robert J., Dupuis, Lucie, Mendoza‐Londono, Roberto, Al Rukban, Hadeel, Yoon, Grace, Faqeih, Eissa, Alkuraya, Fowzan S.

“…Objective Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to…”
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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome by Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.

“…Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal…”
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Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease by Hamed, Alaa, DasMahapatra, Pronabesh, Lyn, Nicole, Gwaltney, Chad, Hopkin, Robert J

“…The systematic collection of disease-specific symptoms and impacts on the lives of patients with Fabry Disease (FD) can offer unique insights into the patient…”
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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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Congenital Hypothyroidism: Screening and Management by Rose, Susan R, Wassner, Ari J, Wintergerst, Kupper A, Yayah-Jones, Nana-Hawa, Hopkin, Robert J, Chuang, Janet, Smith, Jessica R, Abell, Katherine, LaFranchi, Stephen H

“…Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Prompt diagnosis by newborn screening (NBS) leading to early and adequate…”
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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 Fabry Disease in 352 Pediatric Patients in the Fabry Registry by Hopkin, Robert J, Bissler, John, Banikazemi, Maryam, Clarke, Lorne, Eng, Christine M, Germain, Dominique P, Lemay, Roberta, Tylki-Szymanska, Anna, Wilcox, William R

“…Fabry disease is an X-linked lysosomal disease caused by deficiency of α-galactosidase A. Signs and symptoms of Fabry disease occurring during childhood and…”
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Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13 by Russell, Bianca E., Whaley, Kaitlin G., Bove, Kevin E., Labilloy, Anatalia, Lombardo, Rachel C., Hopkin, Robert J., Leslie, Nancy D., Prada, Carlos, Assouline, Zahra, Barcia, Giulia, Bouchereau, Juliette, Chomton, Maryline, Debray, Dominique, Dorboz, Imen, Durand, Philippe, Gaignard, Pauline, Habes, Dalila, Jardel, Claude, Labarthe, François, Lévy, Jonathan, Lombès, Anne, Mehler‐Jacob, Claire, Melki, Judith, Menvielle, Laura, Munnich, Arnold, Mussini, Charlotte, Pichard, Samia, Rio, Marlène, Rötig, Agnès, Sissaoui, Samira, Slama, Abdelhamid, Miethke, Alexander G, Schiff, Manuel

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Complex genomic rearrangements of the Y chromosome in a premature infant by Balow, Stephanie A, Coyan, Alyxis G, Smith, Nicki, Russell, Bianca E, Monteil, Danielle, Hopkin, Robert J, Smolarek, Teresa A

“…Chromoanagenesis is an umbrella term used to describe catastrophic "all at once" cellular events leading to the chaotic reconstruction of chromosomes. It is…”
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Renal complications of Fabry disease in children by Najafian, Behzad, Mauer, Michael, Hopkin, Robert J., Svarstad, Einar

“…Fabry disease is an X-linked α-galactosidase A deficiency, resulting in accumulation of glycosphingolipids, especially globotriaosylceramide, in cells in…”
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Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial by Wijburg, Frits A, Bénichou, Bernard, Bichet, Daniel G, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, An Haack, Kristina, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tøndel, Camilla, Tylki-Szymańska, Anna, Ramaswami, Uma

“…This analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an…”
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Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome by Santoro, Stephanie L., MD, Martin, Lisa J., PhD, Pleatman, Stephen I., MD, Hopkin, Robert J., MD

“…Objectives To assess adherence to the 2011 American Academy of Pediatrics (AAP) health supervision guidelines for Down syndrome, to determine whether…”
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Contributions to Racial Disparity in Mortality among Children with Down Syndrome by Santoro, Stephanie L., MD, Esbensen, Anna J., PhD, Hopkin, Robert J., MD, Hendershot, Lesly, PsyD, Hickey, Francis, MD, Patterson, Bonnie, MD

“…Objective To evaluate whether racial differences across a variety of medical factors collected in a longitudinal clinical database at a specialty clinical for…”
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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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Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study by Bichet, Daniel G., Hopkin, Robert J., Aguiar, Patrício, Allam, Sridhar R., Chien, Yin-Hsiu, Giugliani, Roberto, Kallish, Staci, Kineen, Sabina, Lidove, Olivier, Niu, Dau-Ming, Olivotto, Iacopo, Politei, Juan, Rakoski, Paul, Torra, Roser, Tøndel, Camilla, Hughes, Derralynn A.

“…Objective Fabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with…”
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Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype by Hopkin, Robert J., Feldt-Rasmussen, Ulla, Germain, Dominique P., Jovanovic, Ana, Martins, Ana Maria, Nicholls, Kathleen, Ortiz, Alberto, Politei, Juan, Ponce, Elvira, Varas, Carmen, Weidemann, Frank, Yang, Meng, Wilcox, William R.

“…Fabry disease is an inherited disorder of glycolipid metabolism with progressive involvement of multiple organs, including the gastrointestinal tract, in…”
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Novel parent-of-origin-specific differentially methylated loci on chromosome 16 by Schulze, Katharina V, Szafranski, Przemyslaw, Lesmana, Harry, Hopkin, Robert J, Hamvas, Aaron, Wambach, Jennifer A, Shinawi, Marwan, Zapata, Gladys, Carvalho, Claudia M B, Liu, Qian, Karolak, Justyna A, Lupski, James R, Hanchard, Neil A, Stankiewicz, Paweł

“…Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns with the lethal…”
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