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Case Reports in Genetics

ISSN: 2090--6544
Publisher: Hindawi Publishing Corporation


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Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

Author(s): Amy L. Shackelford | Laura K. Conlin | Marybeth Hummel | Nancy B. Spinner | Sharon L. Wenger
Volume: 2013
Year: 2013
Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

Author(s): M. Abreu-González | C. García-Delgado | A. Cervantes | A. Aparicio-Onofre | R. Guevara-Yáñez | R. Sánchez-Urbina | M. P. Gallegos-Arreola | A. Luna-Angulo | F. J. Estrada | V. F. Morán-Barroso
Volume: 2013
Year: 2013
Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

Author(s): Neerja Gupta | Anita Kaul | Madhulika Kabra
Volume: 2013
Year: 2013
Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

Author(s): Mariangela Cisternino | Erika Della Mina | Laura Losa | Alexandra Madè | Giulia Rossetti | Lorenzo Andrea Bassi | Giovanni Pieri | Baran Bayindir | Jole Messa | Orsetta Zuffardi | Roberto Ciccone
Volume: 2013
Year: 2013
Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient

Author(s): Melisa Taboas | Cecilia Fernández | Susana Belli | Noemi Buzzalino | Liliana Alba | Liliana Dain
Volume: 2013
Year: 2013
Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

Author(s): Allison Tam | Kit Shan Lee | Sansan Lee | William Burkhalter | Lucio U. Pascua | Thomas P. Slavin
Volume: 2013
Year: 2013
Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

Author(s): D. Wong | S. M. Johnson | D. Young | L. Iwamoto | S. Sood | T. P. Slavin
Volume: 2013
Year: 2013
Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

Author(s): Adrian Mc Cormack | Juliet Taylor | Nerine Gregersen | Alice M. George | Donald R. Love
Volume: 2013
Year: 2013
Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

Author(s): Veronica Ortega | Christina Mendiola | Eric Williamson | Kenneth Higby | Gopalrao V. N. Velagaleti
Volume: 2013
Year: 2013
Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Author(s): Francesca Malvestiti | Francesco Benedicenti | Simona De Toffol | Sara Chinetti | Adelheid Höller | Beatrice Grimi | Gertrud Fichtel | Monica Braghetto | Cristina Agrati | Eleonora Bonaparte | Federico Maggi | Giuseppe Simoni | Francesca Romana Grati
Volume: 2013
Year: 2013
An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva

Author(s): Rafael Herrera-Esparza | Deyanira Pacheco-Tovar | Juan José Bollain-y-Goytia | Felipe Torres del Muro | Roxana Ramírez-Sandoval | María Guadalupe Pacheco-Tovar | María Castañeda-Ureña | Esperanza Avalos-Díaz
Volume: 2013
Year: 2013
Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency

Author(s): Piotr K. Janicki | Sonia Vaida | Hamid A. B. AL-Mondhiry
Volume: 2013
Year: 2013
Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

Author(s): Catarina Dias | Lara Isidoro | Mafalda Santos | Helena Santos | Jorge Sales Marques
Volume: 2013
Year: 2013
An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms

Author(s): Ivan Y. Iourov | Svetlana G. Vorsanova | Oxana S. Kurinnaia | Yuri B. Yurov
Volume: 2013
Year: 2013
MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

Author(s): Anna Dabkowska-Huc | Piotr Skalba | Antoni Pyrkosz
Volume: 2013
Year: 2013
A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

Author(s): M. A. Ramirez-Garcia | O. F. Chacon-Camacho | C. Leyva-Hernandez | A. Cardenas-Conejo | J. C. Zenteno
Volume: 2013
Year: 2013
First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

Author(s): Lindsay B. Henderson | Virginia L. Corson | Daniel O. Saul | Cynthia Anderson | Sarah Millard | Denise A. S. Batista | Karin J. Blakemore | Cheryl DeScipio
Volume: 2013
Year: 2013
A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the Literature

Author(s): Deniz Gören Şahin | Beyhan Durak | Eren Gündüz | Sevilhan Artan | Olga Meltem Akay
Volume: 2013
Year: 2013
Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

Author(s): Tieneka M. Baker | Erica L. Sturm | Clesson E. Turner | Scott M. Petersen
Volume: 2013
Year: 2013
Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

Author(s): Jonathan Lévy | Jean-Marie Jouannic | Julien Saada | Ferdinand Dhombres | Jean-Pierre Siffroi | Marie-France Portnoï
Volume: 2013
Year: 2013
Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?

Author(s): M. White | J. Conroy | H. Bullman | M. Lever | E. Daly | D. R. Betts | D. Cody | John A. Crolla | S. A. Lynch
Volume: 2013
Year: 2013
Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren’s Syndrome: The First Case Report from India

Author(s): Rupesh R. Sanap | Arundhati S. Athalye | Prochi F. Madon | Boman N. Dhabhar | Mahendra B. Sute | Amit A. Mahabale | Dhanashree J. Warang | Firuza R. Parikh
Volume: 2013
Year: 2013
Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature

Author(s): Mohammad Al-Haggar | Nermin Ahmad | Sohier Yahia | Amany Shams | Bothina Hasaneen | Rasha Hassan Hassan | Yahya Wahba | Nanees Abdel-Badie Salem | Dina Abdel-Hady
Volume: 2013
Year: 2013
A Case of Premature Ovarian Failure in a 33-Year-Old Woman

Author(s): Emma Colao | Teresa Granata | Marco F. M. Vismara | Francesco Bombardiere | Donatella Nocera | Elisa Luciano | Nicola Perrotti | Paola Malatesta
Volume: 2013
Year: 2013
Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

Author(s): Norma Elena de León Ojeda | Michel Soriano-Torres | Mercedes J. Cabrera | Dunia Bárbara Benítez Ramos
Volume: 2012
Year: 2012
Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

Author(s): Donovan Calder | Maryse Etienne-Julan | Marc Romana | Naomi Watkins | Jennifer M. Knight-Madden
Volume: 2012
Year: 2012
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation

Author(s): Rose H. Mende | David P. Drake | Raimos M. Olomi | Ben C. J. Hamel
Volume: 2012
Year: 2012
Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

Author(s): Frenny Sheth | Naresh Gohel | Thomas Liehr | Olakanmi Akinde | Manisha Desai | Olawaleye Adeteye | Jayesh Sheth
Volume: 2012
Year: 2012
Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

Author(s): Javier Sánchez | Lutgardo García-Díaz | David Chinchón | Guillermo Antiñolo
Volume: 2012
Year: 2012
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports

Author(s): F. Sheth | O. R. Akinde | C. Datar | O. V. Adeteye | J. Sheth
Volume: 2012
Year: 2012
Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

Author(s): Farmaditya E. P. Mundhofir | Helger G. Yntema | Ineke van der Burgt | Ben C. J. Hamel | Sultana M. H. Faradz | Bregje W. M. van Bon
Volume: 2012
Year: 2012
Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Author(s): Yuan Wei | Xuefeng Gao | Liying Yan | Fang Xu | Peining Li | Yangyu Zhao
Volume: 2012
Year: 2012
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

Author(s): Jayesh J. Sheth | Chitra M. Ankleshwaria | Rajeshwari Pawar | Frenny J. Sheth
Volume: 2012
Year: 2012
Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

Author(s): Matthew J. Garabedian | Donna Wallerstein | Nubia Medina | James Byrne | Robert J. Wallerstein
Volume: 2012
Year: 2012
Trisomy 11 as an Additional Chromosome Alteration in a Child with Acute Promyelocytic Leukemia with Poor Prognosis

Author(s): Elenice Ferreira Bastos | Lidiane Alice Silva | Marcelo Coelho Ramos | Glicínia Pimenta | Paulo Ivo Cortez | Stella Beatriz Gonçalves de Lucena | Teresa de Souza Fernandez
Volume: 2012
Year: 2012
Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation

Author(s): Marcelo Razera Baruffi | Deise Helena de Souza | Rosana Aparecida Bicudo da Silva | Ester Silveira Ramos | Danilo Moretti-Ferreira
Volume: 2012
Year: 2012
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

Author(s): Amel Al-Murrani | Fern Ashton | Salim Aftimos | Alice M. George | Donald R. Love
Volume: 2012
Year: 2012
Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes

Author(s): 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 | Lalji Singh
Volume: 2012
Year: 2012
Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome

Author(s): Tri Indah Winarni | Andrea Schneider | Mariya Borodyanskara | Randi J. Hagerman
Volume: 2012
Year: 2012
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

Author(s): 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 | Maria Luiza Macedo Silva
Volume: 2012
Year: 2012
Synchronous Pulmonary Squamous Cell Carcinoma and Mantle Cell Lymphoma of the Lymph Node

Author(s): Yu Sun | Yun-Fei Shi | Li-Xin Zhou | Ke-Neng Chen | Xiang-Hong Li
Volume: 2011
Year: 2011
Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

Author(s): R. Curtis Rogers | Bridgette Aufmuth | Stephanie Monesson
Volume: 2011
Year: 2011
Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation

Author(s): Siri Fredheim | Jannet Svensson | Sven Pørksen | Lars Hansen | Torben Hansen | Oluf Borbye Pedersen | Henrik Bindesbøl Mortensen | Fabrizio Barbetti | Lotte Brøndum Nielsen
Volume: 2011
Year: 2011
Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report

Author(s): Roberto L. P. Mazzaschi | Donald R. Love | Ian Hayes | Alice George
Volume: 2011
Year: 2011
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

Author(s): Sheetal Sharda | Inusha Panigrahi | Ram Kumar Marwaha
Volume: 2011
Year: 2011
A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency

Author(s): N. H. Birkebæk | J. S. Sørensen | J. Vikre-Jørgensen | P. K. A. Jensen | O. Pedersen | T. Hansen
Volume: 2011
Year: 2011
Novel Sonic Hedgehog Mutation in a Couple with VariableExpression of Holoprosencephaly

Author(s): M. Aguinaga | I. Llano | J. C. Zenteno | S. Kofman Alfaro
Volume: 2011
Year: 2011
A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband

Author(s): Nicole K. A. Wilson | Yohan Lee | Robert Long | Karen Hermetz | M. Katharine Rudd | Rachel Miller | Judith L. Rapoport | Anjené M. Addington
Volume: 2011
Year: 2011
Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Author(s): Bani Bandana Ganguly | Vijay Kadam | Nitin N. Kadam
Volume: 2011
Year: 2011
Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Author(s): Diana C. Darcy | Scott Rosenthal | Robert J. Wallerstein
Volume: 2011
Year: 2011
Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes

Author(s): Attila Szvetko | Nicole Martin | Chris Joy | Andrea Hayward | Bob Watson | Andrew Cary | Stephen Withers
Volume: 2012
Year: 2012
Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

Author(s): Rachel O'Connor | Amel Al-Murrani | Salim Aftimos | Philip Asquith | Roberto Mazzaschi | Dominique Eyrolle-Guignot | Alice M. George | Donald R. Love
Volume: 2011
Year: 2011
Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

Author(s): E. M. Abdalla | H. Morsy
Volume: 2011
Year: 2011
Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

Author(s): Tanjung A. Sumekar | Aneel A. Ashrani | Tri I. Winarni | Randi J. Hagerman
Volume: 2011
Year: 2011
Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis

Author(s): Omid Kohannim | Jane Peredo | Katrina M. Dipple | Fabiola Quintero-Rivera
Volume: 2011
Year: 2011
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