Works matching IS 20906544 AND DT 2015 AND VI 2015

Results: 21

Novel Mutation in a Patient with Cholesterol Ester Storage Disease.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/347342

By:

Lin, Patrick;
Raikar, Sheela;
Jimenez, Jennifer;
Conard, Katrina;
Furuya, Katryn N.

Publication type:

Article

A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/517678

By:

Sismani, Carolina;
Christopoulou, Georgia;
Alexandrou, Angelos;
Evangelidou, Paola;
Donoghue, Jacqueline;
Konstantinidou, Anastasia E.;
Velissariou, Voula

Publication type:

Article

Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/219691

By:

Peddareddygari, Leema Reddy;
Grewal, Raji P.

Publication type:

Article

Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/453105

By:

Brender, Teva;
Wallerstein, Donna;
Sum, John;
Wallerstein, Robert

Publication type:

Article

Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/496053

By:

Jerath, Nivedita U.;
Grider, Tiffany;
Shy, Michael E.

Publication type:

Article

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/528481

By:

Valencia, Maria;
Tabet, Lara;
Yazbeck, Nadine;
Araj, Alia;
Ruiz-Perez, Victor L.;
Charaffedine, Khalil;
Fares, Farah;
Badra, Rebecca;
Farra, Chantal

Publication type:

Article

Different Cardiac Anomalies in Mother and Son with 4q-Syndrome.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/932651

By:

Marcì, Marcello;
Guarina, Angela;
Castiglione, M. Cristina;
Sanfilippo, Nicola

Publication type:

Article

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/192071

By:

Mc Cormack, Adrian;
Sharpe, Cynthia;
Gregersen, Nerine;
Smith, Warwick;
Hayes, Ian;
George, Alice M.;
Love, Donald R.

Publication type:

Article

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/926545

By:

Hochstenbach, R.;
Page-Christiaens, G. C. M. L.;
van Oppen, A. C. C.;
Lichtenbelt, K. D.;
van Harssel, J. J. T.;
Brouwer, T.;
Manten, G. T. R.;
van Zon, P.;
Elferink, M.;
Kusters, K.;
Akkermans, O.;
Ploos van Amstel, J. K.;
Schuring-Blom, G. H.

Publication type:

Article

3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/876348

By:

de la Hoz, Ana Belén;
Maortua, Hiart;
García-Rives, Ainhoa;
Martínez-González, María Jesús;
Ezquerra, Maitane;
Tejada, María-Isabel

Publication type:

Article

PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/474097

By:

Dawson, Angelika J.;
Cox, Janice;
Hovanes, Karine;
Spriggs, Elizabeth

Publication type:

Article

Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/950574

By:

Resim, Sefa;
Kucukdurmaz, Faruk;
Kankılıc, Nazım;
Altunoren, Ozlem;
Efe, Erkan;
Benlioglu, Can

Publication type:

Article

Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/259627

By:

Mutlu-Albayrak, Hatice;
Bene, Judit;
Oflaz, Mehmet Burhan;
Tanyalçın, Tijen;
Çaksen, Hüseyin;
Melegh, Bela

Publication type:

Article

Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/131852

By:

Dilzell, Kristen;
Darcy, Diana;
Sum, John;
Wallerstein, Robert

Publication type:

Article

Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/289627

By:

Molinario, Rossana;
Palumbo, Sara;
Concolino, Paola;
Rocchetti, Sandro;
Rizza, Roberta;
Scaglione, Giovanni Luca;
Minucci, Angelo;
Capoluongo, Ettore

Publication type:

Article

Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/212436

By:

Goitia, Veronica;
Oquendo, Marcial;
Stratton, Robert

Publication type:

Article

Erratum to “Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies”.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/239874

By:

Cho, Sun-Mi;
Hong, Bo Young;
Kim, Yoonjung;
Lee, Sang Guk;
Yang, Jin-Young;
Kim, Juwon;
Lee, Kyung-A

Publication type:

Article

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/239167

By:

Jerath, Nivedita U.;
Crockett, Cameron D.;
Moore, Steven A.;
Shy, Michael E.;
Weihl, Conrad C.;
Chou, Tsui-Fen;
Grider, Tiffany;
Gonzalez, Michael A.;
Zuchner, Stephan;
Swenson, Andrea

Publication type:

Article

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/301264

By:

Kawahara, Tetsuya;
Watanabe, Hiromi;
Omae, Risa;
Yamamoto, Toshiyuki;
Inazu, Tetsuya

Publication type:

Article

Exceptional Complex Chromosomal Rearrangements in Three Generations.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/321014

By:

Kartapradja, Hannie;
Marzuki, Nanis Sacharina;
Pertile, Mark D.;
Francis, David;
Suciati, Lita Putri;
Anggaratri, Helena Woro;
Ambarwati, Debby Dwi;
Idris, Firman Prathama;
Lesmana, Harry;
Trimarsanto, Hidayat;
Paramayuda, Chrysantine;
Harahap, Alida Roswita

Publication type:

Article

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/943905

By:

Jedraszak, Guillaume;
Receveur, Aline;
Andrieux, Joris;
Mathieu-Dramard, Michèle;
Copin, Henri;
Morin, Gilles

Publication type:

Article