Listar Medicina, ciencias biomédicas y salud pública por autor "3506d0f2-a50f-4f53-8497-88fac76720e1"

Mostrando ítems 1-8 de 8

    • A novel myosin heavy chain gene in human chromosome 19q13.3 

      Leal Esquivel, Alejandro; Endele, Sabine; Stengel, Corinna; Huehe, Kartrin; Loetterle, Joachim; Barrantes Mesén, Ramiro; Winterpacht, Andreas; Rautenstrauss, Bernd (Gene: 312 p. 165-171, 2003-07)
      A human myosin heavy chain gene was identified in chromosome 19q13 by computational sequence analysis, RT-PCR and DNA sequencing of the cDNA. The complete cDNA has a length of 6786 bp and comprises 41 exons (40 coding) ...

    • A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3 

      Leal Esquivel, Alejandro; Morera Brenes, Bernal; del Valle Carazo, Gerardo; Heuss, Dieter; Kayser, Corinna; Berghoff, Martin; Villegas Palma, Ramón; Hernández, Erick; Méndez, María; Hennies, Hans Christian; Bernhard, Neundörfer; Barrantes Mesén, Ramiro; Reis, André; Rautenstrauss, Bernd (American Journal Human Genetic ; 68 (1 p. 269-274, 2001)
      Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus ...

    • Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family 

      Leal Esquivel, Alejandro; Berghoff, Corinna; Berghoff, Martin; del Valle Carazo, Gerardo; Contreras, Carlos; Montoya, Olga; Hernández, Erick; Barrantes Mesén, Ramiro; Schlötzer Schrehardt, Ursula; Neundörfer, Bernhard; Reis, André; Rautenstrauss, Bernd; Heuss, Dieter (Neurogenetics : 4 (4) p. 191-197, 2003-07-05)
      Abstract. Charcot-Marie-Tooth disease type IB (CMT 1B) is caused by mutations in the gene coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion and compaction of peripheral myelin. ...

    • Glaucoma in Costa RIca. Initial approaches 

      Rautenstrauss, Bernd; Azofeifa Navas, Jorge; Chavarría Soley, Gabriela (2004-12-15)
      El glaucoma es la segunda causa de ceguera irreversible en el mundo. El componente genetico de algunos de los distintos tipos ha sido demostrado: seis loci (GLC1AGLC1F) y dos genes (TIGNMY0C y OPTN) se conocen. hasta ...

    • Heterozygous Loss-of-Function Variants in CYP1B1 Predispose to Primary Open-Angle Glaucoma 

      Passuto, Francesca; Chavarría Soley, Gabriela; Mardin, Christian Y.; Michels Rautenstrauss, Karin G.; Ingelman Sundberg, Magnus; Fernández Martínez, Lorena; Weber, Bernhard H. F.; Rautenstrauss, Bernd; Reis, André (2010-01)
      Purpose.: Although primary congenital glaucoma (PCG)–associated CYP1B1 mutations in the heterozygous state have been evaluated for association with primary open-angle glaucoma (POAG) in several small studies, their ...

    • Novel Mutations in the MYOC/GLC1A Gene in a Large Group of Glaucoma Patients 

      Michels Rautenstrauss, Karin G.; Mardin, Christian Y.; Nina, Wakili; Jünemann, Anselm M.; Villalobos, Luis; Mejía, Carlos Amando; Chavarría Soley, Gabriela; Azofeifa Navas, Jorge; Özbey, Sevinc; OH Naumann, Gottfried; Reis, André; Rautenstrauss, Bernd (Human Mutant ion 20 (6): 479-484, 2002)
      Mutations at the myocflin (MYOC) gene within the GLC1A locus have been revealed in 2- 4% of patients suffering primary open angle glaucoma (POAG) worldwide. In our ongoing glaucoma study sixhundred eighty two persons ...

    • Primary Congenital Glaucoma: A Novel Single-Nucleotide Deletion and Varying Phenotypic Expression for the 1546-1555dup Mutation in the GLC3A (CYP1B1) Gene in 2 Families of Different Ethnic Origin 

      Chavarría Soley, Gabriela; Bosse, Kristin A.; Azofeifa Navas, Jorge; Mardin, Christian Y.; Reis, André; Michels Rautenstrauss, Karin G.; Rautenstrauss, Bernd (Journal Glaucoma: 12 p. 27-30, 2003-02)
      Purpose: To present new molecular genetic data on primary congenital glaucoma from 2 families, 1 isolated case and 3 familial cases due to mutations in the cytochrome P-450 1B1 (CYP1B1) gene. Methods: All diagnoses were ...

    • Profiling of WDR36 Missense Variants in German Patients with Glaucoma 

      Passuto, Francesca; Mardin, Christian Y.; Michels Rautenstrauss, Karin G.; Weber, Bernhard H. F.; Sticht, Heinrich; Chavarría Soley, Gabriela; Rautenstrauss, Bernd; Kruse, Friedrich; Reis, André (2008-02)
      PURPOSE. Mutations in WDR36 were recently reported in patients with adult-onset primary open-angle glaucoma (POAG). In this study, the prevalence of WDR36 variants was investigated in patients with glaucoma who were of ...