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Journal Articles
Neurofibromatosis Type 1 : A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency
By: Domingues, Sara; Rocha, Dalila; Morrison, Patrick…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm
By: Conard, Katrina; Hyland, James; Pizarro, Christian…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
Previously Unreported Chromosomal Aberrations of t(3;3)(q29;q23), t(4;11)(q21;q23), and t(11;18)(q10;q10) in a Patient with Accelerated Phase Ph+ CML
By: Cetin, Zafer; Berker Karauzum, Sibel; Bunyan, D. J.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
Microduplication of 3p26.3 Implicated in Cognitive Development
By: Maikoo, Raj; Mazzaschi, Roberto L. P.; Parnell, Laurence D.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-6, 6 p.
Journal Articles
Congenital Arthrogryposis : An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
By: Williams, C. A.; Paracchini, S.; Perry, R.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype
By: Tsoukalas, Nikolaos; Konstantopoulou, Irene; Kibriya, M. G.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
An Interstitial Deletion at 10q26.2q26.3
By: Vorsanova, Svetlana G.; Kurinnaia, Oxana S.; Lehman, D.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11
By: Tanteles, George A.; Phylactou, Leonidas A.; Vogt, G.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
A Case of False Negative NIPT for Down Syndrome-Lessons Learned
By: Smith, Meagan; Lewis, Kimberly M.; Holmes, Alexandrea…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
By: Taylor, Juliet; Bunyan, D. J.; Ennis, S.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-6, 6 p.
Journal Articles
Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21 : A Case Report and Review of the Literature
By: Downie, Lilian; Pertile, Mark D.; López Ginés, C.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-6, 6 p.
Journal Articles
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
By: Jones, Marilyn C.; Dietz, Harry C.; Das, Soma…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-5, 5 p.
Journal Articles
An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis
By: Sánchez, Javier; Bernal, Ricardo; López Ginés, C.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier
By: Hyon, Capucine; Balet, Richard; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-2, 2 p.
Journal Articles
Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes
By: Richard, Craig; Parnell, Laurence D.; Saccucci, Patrizia…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder
By: Laplana, Marina; Aluja, Anton; Kibriya, M. G.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-9, 9 p.
Journal Articles
Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency
By: Kedev, S.; Bunyan, D. J.; Julier, C.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-5, 5 p.
Journal Articles
Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2) : Further Delineation of 3q Duplication Syndrome
By: García-Delgado, C.; Cervantes, A.; Guevara-Yáñez, R.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-8, 8 p.
Journal Articles
Persistent Mosaicism for 12p DuplicationTriplication Chromosome Structural Abnormality in Peripheral Blood
By: Shackelford, Amy L.; Fenger, Mogens; Vogt, G.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome
By: Buterbaugh, Allison; Love, Kaitlin; Saccucci, Patrizia…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm
By: Pieri, Giovanni; Bayindir, Baran; Zuffardi, Orsetta…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-6, 6 p.
Journal Articles
Prenatal Diagnosis of Fetal Peters’ Plus Syndrome : A Case Report
By: Gupta, Neerja; López Ginés, C.; Saccucci, Patrizia…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-3, 3 p.
Journal Articles
Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations
By: Wijetunge, U. Kalpani S.; Bunyan, D. J.; Vogt, G.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient
By: Fernández, Cecilia; Alba, Liliana; Grant, Struan F. A.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion
By: Tam, Allison; Bunyan, D. J.; DeWan, A.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype : Tracheoesophageal Fistula and Congenital Cataracts
By: Young, D.; Bunyan, D. J.; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-3, 3 p.
Journal Articles
Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta
By: Ortega, Veronica; DeWan, A.; Julier, C.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
Delineation of 2q32q35 Deletion Phenotypes : Two Apparent “Proximal” and “Distal” Syndromes
By: Taylor, Juliet; Grant, Struan F. A.; López Ginés, C.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-8, 8 p.
Journal Articles
Recombinant Chromosome 4 from a Familial Pericentric Inversion : Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
By: Malvestiti, Francesca; Benedicenti, Francesco; Maggi, Federico…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
Trichorhinophalangeal Syndrome Type I : A Patient with Two Novel and Different Mutations in the TRPS1 Gene
By: Dias, Catarina; Marques, Jorge Sales; Grant, Struan F. A.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
Targeted Next-Generation Resequencing of F5 Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency
By: al-Mondhiry, Hamid A. B.; Cotter, Philip D.; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-7, 7 p.
Journal Articles
An Activin Receptor IAActivin-Like Kinase-2 (R206H) Mutation in Fibrodysplasia Ossificans Progressiva
By: Herrera-Esparza, Rafael; Bollain-y-Goytia, Juan José; Grant, Struan F. A.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-5, 5 p.
Journal Articles
Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple
By: Baker, Tieneka M.; Sturm, Erica L.; Turner, Clesson E.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-3, 3 p.
Journal Articles
A New Case of dic(1;15)(p11;p11) in AML M1 : Apropos of a Case and a Review of the Literature
By: Durak, Beyhan; Akay, Olga Meltem; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-3, 3 p.
Journal Articles
A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome
By: Chacon-Camacho, O. F.; Leyva-Hernandez, C.; Zenteno, J. C.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7
By: Corson, Virginia L.; Anderson, Cynthia; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-3, 3 p.
Journal Articles
MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis
By: Skalba, Piotr; Pyrkosz, Antoni; Saccucci, Patrizia…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
By: Kurinnaia, Oxana S.; Ennis, S.; Paracchini, S.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-5, 5 p.
Journal Articles
p-ANCA-Associated Vasculitis Caused by Levamisole-Adulterated Cocaine : A Case Report
By: Carter, Michelle R.; Iannone, P.; Kikuchi, Norihiro…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
A Case of Premature Ovarian Failure in a 33-Year-Old Woman
By: Colao, Emma; Saccucci, Patrizia; Slavotinek, A. M.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-5, 5 p.
Journal Articles
Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene : A Case Report and Review of Literature
By: Hassan Hassan, Rasha; Abdel-Hady, Dina; Marquet, S.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-8, 8 p.
Journal Articles
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
By: Warang, Dhanashree J.; Parikh, Firuza R.; Shen, G.-Q.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-3, 3 p.
Journal Articles
Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster : Coincidence or Causal?
By: Crolla, John A.; Lynch, S. A.; DeWan, A.…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-3, 3 p.
Journal Articles
Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism
By: Lévy, Jonathan; Jouannic, Jean-Marie; Dhombres, Ferdinand…[et al.]. Case Reports in Genetics. No. 2013 (2013), pp.1-4, 4 p.
Journal Articles
Sickle Retinopathy in a Person with Hemoglobin SNew York Disease
By: Etienne-Julan, Maryse; Romana, Marc; Knight-Madden, Jennifer M.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-3, 3 p.
Journal Articles
Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)
By: Soriano-Torres, Michel; Cabrera, Mercedes J.; Benítez Ramos, Dunia Bárbara…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-5, 5 p.
Journal Articles
Gain of Chromosome 4qter and Loss of 5pter : An Unusual Case with Features of Cri du Chat Syndrome
By: Liehr, Thomas; Adeteye, Olawaleye; Bunyan, D. J.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-4, 4 p.
Journal Articles
Cornelia de Lange Syndrome : A Newborn with Imperforate Anus and a NIPBL Mutation
By: Mende, Rose H.; Drake, David P.; Hamel, Ben C. J.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-3, 3 p.
Journal Articles
Mowat-Wilson Syndrome : The First Clinical and Molecular Report of an Indonesian Patient
By: Yntema, Helger G.; van Bon, Bregje W. M.; Perry, R.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-3, 3 p.
Journal Articles
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH : Case Reports
By: Datar, C.; Adeteye, Olawaleye; López Ginés, C.…[et al.]. Case Reports in Genetics. No. 2012 (2012), pp.1-5, 5 p.
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