64 results match your criteria: "Elejalde Syndrome"
Caspian J Intern Med
January 2024
Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, Tehran, Iran.
Ann Rheum Dis
December 2023
Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
Int J Trichology
April 2023
Department of Dermatology, Venereology and Leprology, Coimbatore Medical College and Hospital, Coimbatore, Tamil Nadu, India.
Indian J Dermatol
January 2023
Department of Dermatology, St. John's Medical College, Bengaluru, Karnataka, India.
Introduction: Griscelli syndrome (GS) is a very rare autosomal recessive disorder, belongs to group of "silvery hair syndromes" which includes Chediak-Higashi syndrome (CHS) and Elejalde syndrome. Hair light microscopy helps in the differentiation of GS and CHS, as both manifest with clinical features. Trichoscopy is useful in the diagnosis of many hair shaft disorders.
View Article and Find Full Text PDFIndian J Dermatol
January 2022
Department of Pediatric Neurology, Rainbow Children's Hospital, Hyderabad, Telangana, India.
Medicina (Kaunas)
March 2019
Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy.
Int Ophthalmol
July 2019
Department of Orbital Surgery, The Rotterdam Eye Hospital, P.O. Box 70030, 3000 LM, Rotterdam, The Netherlands.
Int J Trichology
January 2017
Department of Pediatrics, Division of Pediatric Neurology, Rainbow Children's Tertiary Care Centre, Hyderabad, Telangana, India.
Cutis
June 2016
Department of Dermatology, Hospital Clínic, University of Barcelona, Spain.
Int J Trichology
December 2015
Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary, Karnataka, India.
Int J Trichology
April 2012
Department of Dermatology, STD and Leprosy, Bangalore Medical College and Research Institute, Bangalore, Karnataka, India.
Eur J Pediatr
October 2012
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.
Fetal Pediatr Pathol
June 2012
Department of Pediatrics, Sinai Children's Hospital, Chicago, Illinois 87020, USA.
Int J Trichology
July 2011
Deparments of Dermatology, Venereology and Leprosy, PESIMSR, Kuppakm, Andhra Pradesh, India.
Silvery hair is a rare clinical manifestation which is a common presentation in a group of rare syndromes which usually present in the pediatric age group together termed as "silvery hair syndrome," consisting of Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease. CHS is a rare autosomal recessive disorder. It is characterized by mild pigment dilution (partial oculocutaneous albinism), silvery blond hair, severe phagocytic immunodeficiency, bleeding tendencies, recurrent pyogenic infections, progressive sensory or motor neurological defects.
View Article and Find Full Text PDFJ Neurosci
April 2011
Department of Physiology, Tokyo Women's Medical University School of Medicine, Tokyo 162-8666, Japan.
Clin Dysmorphol
April 2011
Departments of Medical Genetics Pathology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
J Craniofac Surg
March 2009
Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
Int J Trichology
January 2009
Departments of Dermatology, Venereology and Leprosy, SBMP Medical College, Hospital and Research Center, BLDE University, Bijapur, Karnataka, India.
PLoS One
January 2009
Institute of Toxicology and Genetics, Research Center Karlsruhe, Eggenstein-Leopoldshafen, Germany.
Background: Myosin Va is a motor protein involved in vesicular transport and its absence leads to movement disorders in humans (Griscelli and Elejalde syndromes) and rodents (e.g. dilute lethal phenotype in mice).
View Article and Find Full Text PDFBraz J Med Biol Res
October 2008
Departamento de Biologia Celular e Molecular e Bioagentes Patogênicos, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil.
Indian J Dermatol Venereol Leprol
February 2008
Department of Dermatology, Venereology and Leprosy, BLDEA's SBMP Medical College, Hospital and Research Centre, Bijapur, Karnataka, India.
Genet Couns
October 2007
Clinical Genetics Department, National Research Centre, Dokki, Giza, Cairo, Egypt.
Taiwan J Obstet Gynecol
June 2007
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Am J Med Genet A
October 2006
Department of Medical Genetics, Faculty Hospital, Ostrava, Czech Republic.