DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 01 · Volume 09 · März 2020 DOI: 10.1055/s-010-45580

Reviewers' List

  • i

    Contributing Reviewers in 2019

    • Review Article

  • 001
    Cárdenas-Nieto, Diana; Forero-Castro, Maribel; Esteban-Pérez, Clara; Martínez-Lozano, Julio; Briceño-Balcázar, Ignacio:

    The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

    Supplementary Material (PDF)

    • Original Article

  • 009
    Ozyilmaz, Berk; Kirbiyik, Ozgur; Ozdemir, Taha R.; Kaya, Ozge Ozer; Kutbay, Yasar B.; Erdogan, Kadri M.; Guvenc, Merve Saka; Koc, Altug:

    The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci

  • 019
    Barbian, Cláudia Daniela; Reuter, Cézane Priscila; Renner, Jane Dagmar Pollo; da Silva, Priscila Tatiana; Klinger, Elisa Inês; Hobkirk, James Philip; de Moura Valim, Andréia Rosane; Burgos, Miria Suzana:

    Anthropometric and Metabolic Responses in FTO rs9939609 Gene Polymorphism after a Multidisciplinary Lifestyle Intervention in Overweight and Obese Adolescents

    • Case Report

  • 027
    Taslicay, Ceylan Altintas; Dervisoglu, Elmire; Ciftci, Ercument; Corapcioglu, Funda; Anik, Yonca:

    PHACE Syndrome: A Rare Case

  • 032
    Atli, Emine Ikbal; Gurkan, Hakan; Atli, Engin; Vatansever, Ulfet; Acunas, Betul; Mail, Cisem:

    De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype Correlation

  • 040
    Arslan, Ahmet Burak; Zamani, Ayşe Gül; Pekcan, Sevgi; Yıldırım, Mahmut Selman:

    A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype—c.4096A > T

  • 044
    Masip, Etna; Donat, Ester; Polo, Begoña; Oltra, Silvestre; Ortega, Pedro; Ribes-Koninckx, Carmen:

    Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea

  • 048
    Ramos Mejía, Rosario; Aza-Carmona, Miriam; del Pino, Mariana; Heath, Karen E.; Fano, Virginia; Obregon, Maria Gabriela:

    Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation

  • 053
    Herrero-García, Ana; Marín-Reina, Purificación; Cabezuelo-Huerta, Gloria; Ferrer-Lorente, M. Belén; Rosello, Mónica; Orellana, Carmen; Martínez, Francisco; Pérez-Aytés, Antonio:

    Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion

  • 058
    da Costa Almeida, Carla Bastos; Welter, Amanda Thum; Abech, Gabriel Dotta; Brandão, Gabriela Rangel; Flores, José Antônio Monteiro; Schüle, Birgitt; Francke, Uta; Fiegenbaum, Marilu; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado:

    Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant

  • 063
    Jain, Angita; Selvam, Pavalan; Atwal, Herjot; Atwal, Paldeep S.:

    A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome

  • 066
    Pournami, Femitha; Upadhyay, Swati; Nandakumar, Anand; Prabhakar, Jyothi; Jain, Naveen:

    Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19

  • 069
    Leone, Paola E.; Pérez-Villa, Andy; Yumiceba, Verónica; Hernández, María Ángeles; García-Cárdenas, Jennyfer M.; Armendáriz-Castillo, Isaac; Guerrero, Santiago; Guevara-Ramírez, Patricia; López-Cortés, Andrés; Zambrano, Ana Karina; García, Juan Luis; Hernández, Jesús María; Paz-y-Miño, César:

    De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation

    Supplementary Material (PDF)

    • Letter to the Editor

  • 076
    Sriwijitalai, Won; Wiwanitkit, Viroj:

    Polymorphism in MTHFR (at SNPs 677 and 1298) in Paternal Sperm DNA and Risk of Retinoblastoma in their Children