Works matching IS 1178704X AND DT 2015 AND VI 8

Results: 24

Insights into genetic susceptibility in the etiology of spontaneous preterm birth.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 283, doi. 10.2147/TACG.S58612

By:

Parets, Sasha E.;
Knight, Anna K.;
Smith, Alicia K.

Publication type:

Article

ROCK2 and MYLK variants under hypobaric hypoxic environment of high altitude associate with high altitude pulmonary edema and adaptation.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 257, doi. 10.2147/TACG.S90215

By:

Pandey, Priyanka;
Ghulam Mohammad;
Singh, Yogendra;
Qadar Pasha, M. A.

Publication type:

Article

Sanfilippo syndrome: causes, consequences, and treatments.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 269, doi. 10.2147/TACG.S57672

By:

Fedele, Anthony O.

Publication type:

Article

The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 235, doi. 10.2147/TACG.S69969

By:

Hoyle, J. Chad;
Isfort, Michael C.;
Roggenbuck, Jennifer;
Arnold, W. David

Publication type:

Article

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 245, doi. 10.2147/TACG.S68650

By:

Vairo, Filippo;
Federhen, Andressa;
Baldo, Guilherme;
Riegel, Mariluce;
Burin, Maira;
Leistner-Segal, Sandra;
Giugliani, Roberto

Publication type:

Article

Genetics of inherited primary arrhythmia disorders.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 215, doi. 10.2147/TACG.S55762

By:

Spears, Danna A.;
Gollob, Michael H.

Publication type:

Article

An update of clinical management of acute intermittent porphyria.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 201, doi. 10.2147/TACG.S48605

By:

Pischik, Elena;
Kauppinen, Raili

Publication type:

Article

Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 181, doi. 10.2147/TACG.S68635

By:

Lijiang Ma;
Ruijun Bao

Publication type:

Article

1p36 deletion syndrome: an update.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 189, doi. 10.2147/TACG.S65698

By:

Jordan, Valerie K.;
Zaveri, Hitisha P.;
Scott, Daryl A.

Publication type:

Article

Alström syndrome: current perspectives.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 171, doi. 10.2147/TACG.S56612

By:

Álvarez-Satta, María;
Castro-Sánchez, Sheila;
Valverde, Diana

Publication type:

Article

Hardy-Weinberg equilibrium analysis of the 48 bp VNTR in the III exon of the DRD4 gene in a sample of parents of ADHD cases.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 133, doi. 10.2147/TACG.S74300

By:

Trejo, Salvador;
Toscano-Flores, José J.;
Matute, Esmeralda;
de Lourdes Ramírez-Dueñas, María

Publication type:

Article

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 137, doi. 10.2147/TACG.S60472

By:

von Kodolitsch, Yskert;
De Backer, Julie;
Schüler, Helke;
Bannas, Peter;
Behzadi, Cyrus;
Bernhardt, Alexander M.;
Hillebrand, Mathias;
Fuisting, Bettina;
Sheikhzadeh, Sara;
Rybczynski, Meike;
Kölbel, Tilo;
Püschel, Klaus;
Blankenberg, Stefan;
Robinson, Peter N.

Publication type:

Article

Recent advances in gene therapy for lysosomal storage disorders.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 157, doi. 10.2147/TACG.S57682

By:

Rastall, David P. W.;
Amalfitano, Andrea

Publication type:

Article

22q11 deletion syndrome: current perspective.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 123, doi. 10.2147/TACG.S82105

By:

Hacıhamdioğlu, Bülent;
Hacıhamdioğlu, Duygu;
Delil, Kenan

Publication type:

Article

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 109, doi. 10.2147/TACG.S49590

By:

Wiesinger, Christoph;
Eichler, Florian S.;
Berger, Johannes

Publication type:

Article

The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 95, doi. 10.2147/TACG.S51484

By:

Leoz, Maria Liz;
Carballal, Sabela;
Moreira, Leticia;
Ocaña, Teresa;
Balaguer, Francesc

Publication type:

Article

Emerging pharmacologic treatment options for fragile X syndrome.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 75, doi. 10.2147/TACG.S35673

By:

Schaefer, Tori L.;
Davenport, Matthew H.;
Erickson, Craig A.

Publication type:

Article

Bilateral granulosa cell tumors: a novel malignant manifestation of multiple endocrine neoplasia 1 syndrome found in a patient with a rare menin in-frame deletion.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 69, doi. 10.2147/TACG.S72223

By:

Hall, Michael J.;
Innocent, Julie;
Rybak, Christina;
Veloski, Colleen;
Scott, Walter J.;
Hong Wu;
Ridge, John A.;
Hoffman, John P.;
Borghaei, Hossein;
Turaka, Aruna;
Daly, Mary B.

Publication type:

Article

Moyamoya disease and syndromes: from genetics to clinical management.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 49, doi. 10.2147/TACG.S42772

By:

Guey, Stéphanie;
Tournier-Lasserve, Elisabeth;
Hervé, Dominique;
Kossorotoff, Manoelle

Publication type:

Article

Genomic-based tools for the risk assessment, management, and prevention of type 2 diabetes.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 1, doi. 10.2147/TACG.S75583

By:

Johansen Taber, Katherine A.;
Dickinson, Barry D.

Publication type:

Article

The genetics of Ménière's disease.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 9, doi. 10.2147/TACG.S59024

By:

Chiarella, Giuseppe;
Petrolo, C.;
Cassandro, E.

Publication type:

Article

Progressive osseous heteroplasia: diagnosis, treatment, and prognosis.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 37, doi. 10.2147/TACG.S51064

By:

Pignolo, Robert J.;
Ramaswamy, Girish;
Fong, John T.;
Shore, Eileen M.;
Kaplan, Frederick S.

Publication type:

Article

Tay-Sachs disease: current perspectives from Australia.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 19, doi. 10.2147/TACG.S49628

By:

Lew, Raelia M.;
Burnett, Leslie;
Proos, Anné L.;
Delatycki, Martin B.

Publication type:

Article

The genetics of familial hypercholesterolemia and emerging therapies.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 27, doi. 10.2147/TACG.S44315

By:

Vogt, Anja

Publication type:

Article