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1. Full Text 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 and Hufnagel, Robert B and Miller, Kerry A and Zhou, Yan and McGowan, Simon J and Taylor, John and Craft, Jude and Taylor, Jenny C and Santoro, Stephanie L and Huang, Taosheng and Hopkin, Robert J and Brady, Angela F and Clayton-Smith, Jill and Clericuzio, Carol L and Grange, Dorothy K and Groesser, Leopold and Hafner, Christian and Horn, Denise and Temple, I. Karen and Dobyns, William B and Curry, Cynthia J and Jones, Marilyn C and Wilkie, Andrew O.M
American journal of human genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1256 - 1265
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Intestines - pathology | Intestines - abnormalities | Signal Transduction | Humans | Child, Preschool | Infant | Male | Craniofacial Abnormalities - etiology | Syndactyly - pathology | Mutation - genetics | Skin Abnormalities - etiology | Smoothened Receptor - genetics | Syndactyly - etiology | Craniofacial Abnormalities - pathology | Female | Skin Abnormalities - pathology | Infant, Newborn | Genetic disorders | Gene mutations | Physiological aspects | Cellular signal transduction | Genetic aspects | Health aspects | Hedgehog proteins | Signal transduction | Mutation | Biopsy | Index Medicus | Report
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2. Full Text Fabry's disease
by Zarate, Yuri A, MD and Hopkin, Robert J, Dr
The Lancet (British edition), ISSN 0140-6736, 2008, Volume 372, Issue 9647, pp. 1427 - 1435
Internal Medicine | Errors of metabolism | Biological and medical sciences | Metabolic diseases | General aspects | Medical sciences | Lipids (lysosomal enzyme disorders, storage diseases) | alpha-Galactosidase - genetics | alpha-Galactosidase - therapeutic use | Fabry Disease - epidemiology | Humans | Sex Factors | Fabry Disease - physiopathology | Female | Male | alpha-Galactosidase - metabolism | Fabry Disease - therapy | Fabry Disease - diagnosis | Care and treatment | Genetic aspects | Diagnosis | Fabry's disease | Risk factors | Index Medicus | Abridged Index Medicus
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3. Full Text Lysosomal storage disease 3 - Fabry's disease
by Zarate, Yuri A and Hopkin, Robert J
The Lancet (British edition), ISSN 0140-6736, 10/2008, Volume 372, Issue 9647, pp. 1427 - 1435
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Proteins | Disease prevention | Physical examinations | Life expectancy | Womens health | Hemodialysis | Mutation | Genetic testing | Patients | Risk factors | Clinical outcomes | Apoptosis
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4. Full Text Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
by Chung, Hyung-lok and Wangler, Michael F and Marcogliese, Paul C and Jo, Juyeon and Ravenscroft, Thomas A and Zuo, Zhongyuan and Duraine, Lita and Sadeghzadeh, Sina and Li-Kroeger, David and Schmidt, Robert E and Pestronk, Alan and Rosenfeld, Jill A and Burrage, Lindsay and Herndon, Mitchell J and Chen, Shan and Shillington, Amelle and Vawter-Lee, Marissa and Hopkin, Robert and Rodriguez-Smith, Jackeline and Henrickson, Michael and Lee, Brendan and Moser, Ann B and Jones, Richard O and Watkins, Paul and Yoo, Taekyeong and Mar, Soe and Choi, Murim and Bucelli, Robert C and Yamamoto, Shinya and Lee, Hyun Kyoung and Prada, Carlos E and Chae, Jong-Hee and Vogel, Tiphanie P and Bellen, Hugo J and Members of Undiagnosed Diseases Network and Undiagnosed Dis Network
Neuron (Cambridge, Mass.), ISSN 0896-6273, 05/2020, Volume 106, Issue 4, pp. 589 - 606.e6
very long chain fatty acids | fatty acid peroxidation | NACA | Drosophila | ACOX1 deficiency | ROS | Schwann cells | antioxidant NACA | axonal dystrophy | wrapping glia | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | CRISPR | Enzymes | Reactive oxygen species | Hydrogen peroxide | Nervous system | Lipids | Acyl-CoA oxidase | Fatty acids | Neuronal-glial interactions | Defects | Antioxidants | Peroxisomes | Life span | Neurodegeneration | Synaptic transmission | Oxidation | Mutation | Index Medicus
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5. Full Text Acrofacial dysostosis, Cincinnati type: a mandibulofacial dysostosis syndrome with limb anomalies caused by POLR1A dysfunction
by Weaver, K. Nicole and Noack Watt, Kristin E and Hufnagel, Robert B and Acedo, Joaquin Navajas and Linscott, Luke L and Sund, Kristen L and Bender, Patricia L and König, Rainer and Lourenco, Charles M and Hehr, Ute and Hopkin, Robert J and Lohmann, Dietmar R and Trainor, Paul A and Wieczorek, Dagmar and Saal, Howard M
American journal of human genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, pp. 765 - 774
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Ribosomes - pathology | Humans | Mandibulofacial Dysostosis - physiopathology | Neural Crest - pathology | Neural Crest - growth & development | Genotype | Limb Deformities, Congenital - physiopathology | Zebrafish | Mandibulofacial Dysostosis - genetics | Animals | Cell Death - genetics | Ribosomes - genetics | Mutation | RNA Polymerase I - genetics | Dysostosis | Phenotype | Genetic aspects | Health aspects | Identification and classification | RNA polymerases | Genotype & phenotype | RNA polymerase | Cells | Apoptosis | Index Medicus
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6. Full Text Fabry disease revisited: Management and treatment recommendations for adult patients
by Ortiz, Alberto and Germain, Dominique P and Desnick, Robert J and Politei, Juan and Mauer, Michael and Burlina, Alessandro and Eng, Christine and Hopkin, Robert J and Laney, Dawn and Linhart, Aleš and Waldek, Stephen and Wallace, Eric and Weidemann, Frank and Wilcox, William R
Molecular genetics and metabolism, ISSN 1096-7192, 04/2018, Volume 123, Issue 4, pp. 416 - 427
Fabry disease | Treatment | Diagnosis | Mutation | Management | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Enzyme Replacement Therapy | Humans | Adult | Disease Management | Fabry Disease - enzymology | alpha-Galactosidase - administration & dosage | Fabry Disease - therapy | Care and treatment | Enzyme inhibitors | Chronic kidney failure | Immunoglobulin G | Angiotensin converting enzyme | Angiotensin | Diagnostic imaging | Children | Health aspects | Index Medicus
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7. Full Text The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1
by Prada, Carlos E., MD and Hufnagel, Robert B., MD, PhD and Hummel, Trent R., MD and Lovell, Anne M., MSN, CNP and Hopkin, Robert J., MD and Saal, Howard M., MD and Schorry, Elizabeth K., MD
The Journal of pediatrics, ISSN 0022-3476, 2015, Volume 167, Issue 4, pp. 851 - 856.e1
Pediatrics | Life Sciences & Biomedicine | Science & Technology | Optic Nerve Neoplasms - complications | Comorbidity | Humans | Optic Nerve Glioma - diagnosis | Child, Preschool | Optic Nerve Glioma - complications | Infant | Male | Neurofibromatosis 1 - diagnosis | Disease Progression | Vision Disorders - complications | Magnetic Resonance Imaging | Vision Disorders - diagnosis | Optic Nerve Neoplasms - diagnosis | Neurofibromatosis 1 - complications | Brain - pathology | Female | Retrospective Studies | Child | Usage | Magnetic resonance imaging | Gliomas | Neurofibromatosis | Index Medicus | Abridged Index Medicus
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8. Full Text Genomic education for the next generation of health-care providers
by Campion, MaryAnn and Goldgar, Constance and Hopkin, Robert J and Prows, Cynthia A and Dasgupta, Shoumita
Genetics in medicine, ISSN 1098-3600, 11/2019, Volume 21, Issue 11, pp. 2422 - 2430
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Education, Medical - trends | Genetics, Medical - methods | Genetic Services - trends | Health Personnel - education | Humans | Genetic Counseling - methods | Genetic Counseling - trends | Genetics, Medical - trends | Physicians - trends | Counselors - education | Genetic Testing - trends | Genetic counseling | Index Medicus
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9. Full Text Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome
by Lindsley, Andrew W., MD, PhD and Saal, Howard M., MD and Burrow, Thomas A., MD and Hopkin, Robert J., MD and Shchelochkov, Oleg, MD and Khandelwal, Pooja, MD and Xie, Changchun, PhD and Bleesing, Jack, MD, PhD and Filipovich, Lisa, MD and Risma, Kimberly, MD, PhD and Assa'ad, Amal H., MD and Roehrs, Phillip A., MD and Bernstein, Jonathan A., MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 137, Issue 1, pp. 179 - 187.e10
Allergy and Immunology | KMT2D | polymerase eta | somatic hypermutation | Kabuki syndrome | hypogammaglobulinemia | memory B cells | AID | CD21lo B cells | PTIP | AICDA | KDM6A | class-switch recombination | B cells | CD21 | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Vestibular Diseases - immunology | Agammaglobulinemia - immunology | B-Lymphocytes - cytology | Agammaglobulinemia - genetics | Face - abnormalities | Humans | Child, Preschool | Infant | DNA-Binding Proteins - genetics | Abnormalities, Multiple - immunology | Hematologic Diseases - immunology | Young Adult | B-Lymphocytes - immunology | Adolescent | Hematologic Diseases - genetics | Adult | Cell Differentiation | Mutation | Vestibular Diseases - genetics | Neoplasm Proteins - genetics | Child | Abnormalities, Multiple - genetics | Proteins | Care and treatment | Hospitals | Cell differentiation | Immunodeficiency | Autoimmunity | Immunoglobulins | Adenosine | Laboratories | Cloning | Ear diseases | Medical records | Infections | Gene expression | Defects | Studies | Genotype & phenotype | Epigenetics | Index Medicus | Abridged Index Medicus
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