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Table of Contents for Year 2012 [19 articles]
- Sickle Retinopathy in a Person with Hemoglobin S/New York Disease, Donovan Calder, Maryse Etienne-Julan, Marc Romana, Naomi Watkins, and Jennifer M. Knight-Madden
Volume 2012 (2012), Article ID 136582, 3 pages - Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3), Norma Elena de León Ojeda, Michel Soriano-Torres, Mercedes J. Cabrera, and Dunia Bárbara Benítez Ramos
Volume 2012 (2012), Article ID 321569, 5 pages - Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome, Frenny Sheth, Naresh Gohel, Thomas Liehr, Olakanmi Akinde, Manisha Desai,
Olawaleye Adeteye, and Jayesh Sheth
Volume 2012 (2012), Article ID 153405, 4 pages - Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation, Rose H. Mende, David P. Drake, Raimos M. Olomi, and Ben C. J. Hamel
Volume 2012 (2012), Article ID 247683, 3 pages - Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient, Farmaditya E. P. Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, and Bregje W. M. van Bon
Volume 2012 (2012), Article ID 949507, 3 pages - Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports, F. Sheth, O. R. Akinde, C. Datar, O. V. Adeteye, and J. Sheth
Volume 2012 (2012), Article ID 878796, 5 pages - Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14, Javier Sánchez, Lutgardo García-Díaz, David Chinchón, and Guillermo Antiñolo
Volume 2012 (2012), Article ID 794075, 4 pages - Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea, Usha R. Dutta, Vijaya Kumar Pidugu, and Ashwin Dalal
Volume 2012 (2012), Article ID 212065, 5 pages - Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family, Jayesh J. Sheth, Chitra M. Ankleshwaria, Rajeshwari Pawar, and Frenny J. Sheth
Volume 2012 (2012), Article ID 428075, 4 pages - Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature, Yuan Wei, Xuefeng Gao, Liying Yan, Fang Xu, Peining Li, and Yangyu Zhao
Volume 2012 (2012), Article ID 821347, 5 pages - Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes, Matthew J. Garabedian, Donna Wallerstein, Nubia Medina,
James Byrne, and Robert J. Wallerstein
Volume 2012 (2012), Article ID 490408, 4 pages - Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report, Joana Rita Chora, Helena Simões-Teixeira, Tiago Daniel Matos, Jorge Humberto Martins, Marisa Alves, Raquel Ferreira, Luís Silva, Carlos Ribeiro, Graça Fialho, and Helena Caria
Volume 2012 (2012), Article ID 623860, 5 pages - Trisomy 11 as an Additional Chromosome Alteration in a Child with Acute Promyelocytic Leukemia with Poor Prognosis, Elenice Ferreira Bastos, Lidiane Alice Silva, Marcelo Coelho Ramos, Glicínia Pimenta, Paulo Ivo Cortez, Stella Beatriz Gonçalves de Lucena, and Teresa de Souza Fernandez
Volume 2012 (2012), Article ID 659016, 4 pages - Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay, Amel Al-Murrani, Fern Ashton, Salim Aftimos, Alice M. George, and Donald R. Love
Volume 2012 (2012), Article ID 172408, 4 pages - Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation, Marcelo Razera Baruffi, Deise Helena de Souza, Rosana Aparecida Bicudo da Silva, Ester Silveira Ramos, and Danilo Moretti-Ferreira
Volume 2012 (2012), Article ID 578018, 4 pages - Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes, Lakshmi Rao Kandukuri, Venkata Padmalatha, Murthy Kanakavalli, Raseswari Turlapati, Mangalipally Swapna, Metuku Vidyadhari, Govindaraghavan Saranaya, Kattera Himaja, Mamata Deenadayal, Bipin Kumar Sethi, Prasun Deb, Nalini Gupta, Baidyanath Chakraborthy, Pratibha Nallari, and Lalji Singh
Volume 2012 (2012), Article ID 640563, 8 pages - Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome, Tri Indah Winarni, Andrea Schneider, Mariya Borodyanskara, and Randi J. Hagerman
Volume 2012 (2012), Article ID 280813, 4 pages - Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome, Marina Araújo Fonzar Hernandes, Terezinha de Jesus Marques-Salles, Hasmik Mkrtchyan, Eliane Maria Soares-Ventura, Edinalva Pereira Leite, Maria Tereza Cartaxo Muniz, Maria Teresa Marquim Nogueira Cornélio, Thomas Liehr, Neide Santos, and Maria Luiza Macedo Silva
Volume 2012 (2012), Article ID 186532, 4 pages - Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes, Attila Szvetko, Nicole Martin, Chris Joy, Andrea Hayward, Bob Watson, Andrew Cary, and Stephen Withers
Volume 2012 (2012), Article ID 681747, 4 pages