Magnetic resonance imaging findings in Axenfeld–Rieger syndrome

Autor: Whitehead MT, Choudhri AF, Salim S

Publikováno v: Clinical Ophthalmology, Vol 2013, Iss default, Pp 911-916 (2013)

Matthew T Whitehead,1,2 Asim F Choudhri,1,2 Sarwat Salim31Department of Radiology, University of Tennessee Health Science Center, Memphis, TN, USA; 2Le Bonheur Neuroscience Institute, Le Bonheur Children’s Hospital, Memphis, TN, USA; 3Department of

Externí odkaz: https://doaj.org/article/60286b1ad043440dbd5f71f40e10a4d1

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Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.

Autor: Neeman B; From the Department of Radiology (B.N., L.B.-S.), Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.; Faculty of Medicine (B.N., L.B.-S.), Tel-Aviv University, Tel-Aviv, Israel., Sudhakar S; Department of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Biswas A; Department of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Rosenblum J; Center of Medical Genetics (J.R.), Antwerp University Hospital/University of Antwerp, Antwerp, Belgium., Sidpra J; Developmental Biology and Cancer Section (J.S., K.M.), University College London Great Ormond Street Institute of Child Health, London, UK., D'Arco F; Department of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Löbel U; Department of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Gómez-Chiari M; Diagnostic Imaging Department (M.G.-C.), Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu,(M.G.-C., M.S., M.B.), Barcelona, Spain., Serrano M; Institut de Recerca Sant Joan de Déu,(M.G.-C., M.S., M.B.), Barcelona, Spain.; Neuropediatric Department (M.S.), Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases, Barcelona, Spain., Bolasell M; Institut de Recerca Sant Joan de Déu,(M.G.-C., M.S., M.B.), Barcelona, Spain.; Department of Genetic and Molecular Medicine/IPER (M.B.), Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Reddy K; Department of Radiology and Imaging Sciences (K.R.), Emory University School of Medicine, Atlanta, Georgia., Ben-Sira L; From the Department of Radiology (B.N., L.B.-S.), Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.; Faculty of Medicine (B.N., L.B.-S.), Tel-Aviv University, Tel-Aviv, Israel., Zakzouk R; Division of Neuroradiology (R.Z.), Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Al-Hashem A; Division of Genetics (A.A.-H.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Mirsky DM; Department of Radiology (D.M.M.), Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado., Patel R; Texas Children's Hospital (R.P.), Baylor College of Medicine, Houston, Texas., Radhakrishnan R; Department of Radiology and Imaging Sciences (R.R.), Indiana University School of Medicine, Indianapolis, Indiana., Shekdar K; Department of Radiology (K.S., M.T.W.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Whitehead MT; Department of Radiology (K.S., M.T.W.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Perelman School of Medicine (M.T.W.), University of Pennsylvania, Philadelphia, Pennsylvania., Mankad K; Department of Radiology (S.S., A.B., F.D., U.L., K.M.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Developmental Biology and Cancer Section (J.S., K.M.), University College London Great Ormond Street Institute of Child Health, London, UK.

Publikováno v: AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2024 Oct 03; Vol. 45 (10), pp. 1570-1577. Date of Electronic Publication: 2024 Oct 03.

Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.

Autor: Patel R; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Park AY; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Marchi E; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA., Gropman AL; Department of Neurology, George Washington University, Washington, DC, USA.; Division of Neuroradiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Whitehead MT; Department of Radiology Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Neurogenetics and Developmental Pediatrics, Children's National Health System, Washington, DC, USA., Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Biology PhD Program, The Graduate Center, The City University of New York, New York, New York, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63821. Date of Electronic Publication: 2024 Jul 16.