Works matching IS 00099163 AND DT 2018 AND VI 93 AND IP 3

Results: 35

A critical appraisal of pharmacogenetic inference.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 498, doi. 10.1111/cge.13178

By:

Smit, R. A. J.;
Noordam, R.;
Le Cessie, S.;
Trompet, S.;
Jukema, J. W.

Publication type:

Article

Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism.

Published in:

2018

By:

Burke, E. A.;
Frucht, S. J.;
Thompson, K.;
Wolfe, L. A.;
Yokoyama, T.;
Bertoni, M.;
Huang, Y.;
Sincan, M.;
Adams, D. R.;
Taylor, R. W.;
Gahl, W. A.;
Toro, C.;
Malicdan, M. C. V.

Publication type:

Case Study

Prader‐Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 622, doi. 10.1111/cge.13142

By:

Manzardo, A. M.;
Weisensel, N.;
Ayala, S.;
Hossain, W.;
Butler, M. G.

Publication type:

Article

Epidemiology of Huntington disease in Cyprus: A 20‐year retrospective study.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 656, doi. 10.1111/cge.13168

By:

Demetriou, C. A.;
Heraclides, A.;
Salafori, C.;
Tanteles, G. A.;
Christodoulou, K.;
Christou, Y.;
Zamba‐papanicolaou, E.

Publication type:

Article

Application of next‐generation sequencing to improve cancer management: A review of the clinical effectiveness and cost‐effectiveness.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 533, doi. 10.1111/cge.13199

By:

Tan, O.;
Shrestha, R.;
Cunich, M.;
Schofield, D. J.

Publication type:

Article

Clinical sequencing: From raw data to diagnosis with lifetime value.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 508, doi. 10.1111/cge.13190

By:

Caspar, S. M.;
Dubacher, N.;
Kopps, A. M.;
Meienberg, J.;
Henggeler, C.;
Matyas, G.

Publication type:

Article

Genetic association of molecular traits: A help to identify causative variants in complex diseases.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 520, doi. 10.1111/cge.13187

By:

Vandiedonck, C.

Publication type:

Article

Pharmacogenetics: A strategy for personalized medicine for autoimmune diseases.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 481, doi. 10.1111/cge.13186

By:

Tavakolpour, S.;
Darvishi, M.;
Ghasemiadl, M.

Publication type:

Article

Homozygous mutation in <italic>ELMO2</italic> may cause Ramon syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 703, doi. 10.1111/cge.13166

By:

Mehawej, C.;
Hoischen, A.;
Farah, R. A.;
Marey, I.;
David, M.;
Stora, S.;
Lachlan, K.;
Brunner, H. G.;
Mégarbané, A.

Publication type:

Article

Array‐comparative genomic hybridization analysis in patients with Müllerian fusion anomalies.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 640, doi. 10.1111/cge.13160

By:

Ledig, S.;
Tewes, A. C.;
Hucke, J.;
Römer, T.;
Kapczuk, K.;
Schippert, C.;
Hillemanns, P.;
Wieacker, P.

Publication type:

Article

Genomic disorders 20 years on—mechanisms for clinical manifestations.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 439, doi. 10.1111/cge.13146

By:

Harel, T.;
Lupski, J. R.

Publication type:

Article

A novel nonsense variant in <italic>REEP6</italic> is involved in a sporadic rod‐cone dystrophy case.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 707, doi. 10.1111/cge.13171

By:

Méjécase, C.;
Mohand‐saïd, S.;
El Shamieh, S.;
Antonio, A.;
Condroyer, C.;
Blanchard, S.;
Letexier, M.;
Saraiva, J.‐p.;
Sahel, J.‐a.;
Audo, I.;
Zeitz, C.

Publication type:

Article

Detection of copy number variations in epilepsy using exome data.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 577, doi. 10.1111/cge.13144

By:

Tsuchida, N.;
Nakashima, M.;
Kato, M.;
Heyman, E.;
Inui, T.;
Haginoya, K.;
Watanabe, S.;
Chiyonobu, T.;
Morimoto, M.;
Ohta, M.;
Kumakura, A.;
Kubota, M.;
Kumagai, Y.;
Hamano, S.‐i.;
Lourenco, C. M.;
Yahaya, N. A.;
Ch'ng, G.‐s.;
Ngu, L.‐h.;
Fattal‐valevski, A.;
Weisz Hubshman, M.

Publication type:

Article

Clinical efficacy of a next‐generation sequencing gene panel for primary immunodeficiency diagnostics.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 647, doi. 10.1111/cge.13163

By:

Rae, W.;
Ward, D.;
Mattocks, C.;
Pengelly, R. J.;
Eren, E.;
Patel, S. V.;
Faust, S. N.;
Hunt, D.;
Williams, A. P.

Publication type:

Article

First direct evidence of involvement of a homozygous loss‐of‐function variant in the <italic>EPS15L1</italic> gene underlying split‐hand/split‐foot malformation.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 699, doi. 10.1111/cge.13152

By:

Umair, M.;
Ullah, A.;
Abbas, S.;
Ahmad, F.;
Basit, S.;
Ahmad, W.

Publication type:

Article

Expanding the clinical and molecular spectrum of <italic>PRMT7</italic> mutations: 3 additional patients and review.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 675, doi. 10.1111/cge.13137

By:

Agolini, E.;
Dentici, M. L.;
Bellacchio, E.;
Alesi, V.;
Radio, F. C.;
Torella, A.;
Musacchia, F.;
Tartaglia, M.;
Dallapiccola, B.;
Nigro, V.;
Digilio, M. C.;
Novelli, A.

Publication type:

Article

WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI).

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 693, doi. 10.1111/cge.13147

By:

Guazzarotti, L.;
Tadini, G.;
Mancini, G. E.;
Sani, I.;
Pisanelli, S.;
Galderisi, F.;
D'auria, E.;
Secondi, R.;
Bottero, A.;
Zuccotti, G. V.

Publication type:

Article

Digenic inheritance and genetic modifiers.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 429, doi. 10.1111/cge.13150

By:

Deltas, C.

Publication type:

Article

Novel spondyloepimetaphyseal dysplasia due to <italic>UFSP2</italic> gene mutation.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 671, doi. 10.1111/cge.13134

By:

Di Rocco, M.;
Rusmini, M.;
Caroli, F.;
Madeo, A.;
Bertamino, M.;
Marre‐brunenghi, G.;
Ceccherini, I.

Publication type:

Article

Development and validation of a severity scoring system for Zellweger spectrum disorders.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 613, doi. 10.1111/cge.13130

By:

Klouwer, F. C. C.;
Meester‐delver, A.;
Vaz, F. M.;
Waterham, H. R.;
Hennekam, R. C. M.;
Poll‐the, B. T.

Publication type:

Article

Hypoglycaemia represents a clinically significant manifestation of <italic>PIK3CA</italic>‐ and <italic>CCND2</italic>‐associated segmental overgrowth.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 687, doi. 10.1111/cge.13145

By:

Mcdermott, J. H.;
Hickson, N.;
Banerjee, I.;
Murray, P. G.;
Ram, D.;
Metcalfe, K.;
Clayton‐smith, J.;
Douzgou, S.

Publication type:

Article

<italic>INPP5K</italic> variant causes autosomal recessive congenital cataract in a Pakistani family.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 682, doi. 10.1111/cge.13143

By:

Yousaf, S.;
Sheikh, S. A.;
Riazuddin, S.;
Waryah, A. M.;
Ahmed, Z. M.

Publication type:

Article

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 632, doi. 10.1111/cge.13128

By:

Niceta, M.;
Margiotti, K.;
Digilio, M. C.;
Guida, V.;
Bruselles, A.;
Pizzi, S.;
Ferraris, A.;
Memo, L.;
Laforgia, N.;
Dentici, M. L.;
Consoli, F.;
Torrente, I.;
Ruiz‐perez, V. L.;
Dallapiccola, B.;
Marino, B.;
De Luca, A.;
Tartaglia, M.

Publication type:

Article

Diagnostic exome sequencing in early‐onset Parkinson's disease confirms VPS13C as a rare cause of autosomal‐recessive Parkinson's disease.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 603, doi. 10.1111/cge.13124

By:

Schormair, B.;
Kemlink, D.;
Mollenhauer, B.;
Fiala, O.;
Machetanz, G.;
Roth, J.;
Berutti, R.;
Strom, T. M.;
Haslinger, B.;
Trenkwalder, C.;
Zahorakova, D.;
Martasek, P.;
Ruzicka, E.;
Winkelmann, J.

Publication type:

Article

Bone health and SATB2‐associated syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 588, doi. 10.1111/cge.13121

By:

Zarate, Y. A.;
Steinraths, M.;
Matthews, A.;
Smith, W. E.;
Sun, A.;
Wilson, L. C.;
Brain, C.;
Allgove, J.;
Jacobs, B.;
Fish, J. L.;
Powell, C. M.;
Wasserman, W. W.;
Van Karnebeek, C. D.;
Wakeling, E. L.;
Ma, N. S.

Publication type:

Article

Gene‐panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 595, doi. 10.1111/cge.13123

By:

Pelttari, L. M.;
Shimelis, H.;
Toiminen, H.;
Kvist, A.;
Törngren, T.;
Borg, Å.;
Blomqvist, C.;
Bützow, R.;
Couch, F.;
Aittomäki, K.;
Nevanlinna, H.

Publication type:

Article

Diagnosis of monogenic liver diseases in childhood by next‐generation sequencing.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 665, doi. 10.1111/cge.13120

By:

Stalke, A.;
Skawran, B.;
Auber, B.;
Illig, T.;
Schlegelberger, B.;
Junge, N.;
Goldschmidt, I.;
Leiskau, C.;
Von Neuhoff, N.;
Baumann, U.;
Pfister, E.‐d.

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: 2018
Publication type:: Table of Contents

The impact of epigenomic next‐generation sequencing approaches on our understanding of neuropsychiatric disorders.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 467, doi. 10.1111/cge.13097

By:

Schang, A.‐l.;
Sabéran‐djoneidi, D.;
Mezger, V.

Publication type:

Article

Mechanisms of Mendelian dominance.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 419, doi. 10.1111/cge.13107

By:

Veitia, R. A.;
Caburet, S.;
Birchler, J. A.

Publication type:

Article

Integrated analysis of SNP, CNV and gene expression data in genetic association studies.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 557, doi. 10.1111/cge.13092

By:

Momtaz, R.;
Ghanem, N. M.;
El‐makky, N. M.;
Ismail, M. A.

Publication type:

Article

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 567, doi. 10.1111/cge.13102

By:

Chérot, E.;
Keren, B.;
Dubourg, C.;
Carré, W.;
Fradin, M.;
Lavillaureix, A.;
Afenjar, A.;
Burglen, L.;
Whalen, S.;
Charles, P.;
Marey, I.;
Heide, S.;
Jacquette, A.;
Heron, D.;
Doummar, D.;
Rodriguez, D.;
Billette De Villemeur, T.;
Moutard, M.‐l.;
Guët, A.;
Xavier, J.

Publication type:

Article

Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 459, doi. 10.1111/cge.13066

By:

Ghouse, J.;
Skov, M. W.;
Bigseth, R. S.;
Ahlberg, G.;
Kanters, J. K.;
Olesen, M. S.

Publication type:

Article

Protein misfolding diseases: Prospects of pharmacological treatment.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 450, doi. 10.1111/cge.13088

By:

Gámez, A.;
Yuste‐checa, P.;
Brasil, S.;
Briso‐montiano, Á.;
Desviat, L. R.;
Ugarte, M.;
Pérez‐cerdá, C.;
Pérez, B.

Publication type:

Article

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 545, doi. 10.1111/cge.13060

By:

Vetro, A.;
Goidin, D.;
Lesende, I.;
Limongelli, I.;
Ranzani, G. N.;
Novara, F.;
Bonaglia, M. C.;
Rinaldi, B.;
Franchi, F.;
Manolakos, E.;
Lonardo, F.;
Scarano, F.;
Scarano, G.;
Costantino, L.;
Tedeschi, S.;
Giglio, S.;
Zuffardi, O.

Publication type:

Article