Works matching IS 00099163 AND DT 2018 AND VI 93 AND IP 1

Results: 28

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 173, doi. 10.1111/cge.13086

By:

Paakkola, T.;
Vuopala, K.;
Kokkonen, H.;
Ignatius, J.;
Valkama, M.;
Moilanen, J. S.;
Fahiminiya, S.;
Majewski, J.;
Hinttala, R.;
Uusimaa, J.

Publication type:

Article

Genetic study of early-onset Graves' disease in the Chinese Han population.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 103, doi. 10.1111/cge.13072

By:

Yuan, F.‐F.;
Ye, X.‐P.;
Liu, W.;
Xue, L.‐Q.;
Ma, Y.‐R.;
Zhang, L.‐L.;
Zhang, M.‐M.;
Sun, F.;
Wan, Y.‐Y.;
Zhang, Q.‐Y.;
Zhao, S.‐X.;
Song, H.‐D.;
The China Consortium for the Genetics of Autoimmune Thyroid Disease

Publication type:

Article

Genetic epidemiology of familial Mediterranean fever through integrative analysis of whole genome and exome sequences from Middle East and North Africa.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 92, doi. 10.1111/cge.13070

By:

Koshy, R.;
Sivadas, A.;
Scaria, V.

Publication type:

Article

The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 60, doi. 10.1111/cge.13055

By:

Rijken, J. A.;
Niemeijer, N. D.;
Jonker, M. A.;
Eijkelenkamp, K.;
Jansen, J. C.;
van Berkel, A.;
Timmers, H. J. L. M.;
Kunst, H. P. M.;
Bisschop, P. H. L. T.;
Kerstens, M. N.;
Dreijerink, K. M. A.;
van Dooren, M. F.;
van der Horst‐Schrivers, A. N. A.;
Hes, F. J.;
Leemans, C. R.;
Corssmit, E. P. M.;
Hensen, E. F.

Publication type:

Article

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 111, doi. 10.1111/cge.13089

By:

Baertling, F.;
Sánchez‐Caballero, L.;
van den Brand, M. A. M.;
Fung, C.‐W.;
Chan, S.H.‐S.;
Wong, V.C.‐N.;
Hellebrekers, D. M. E.;
de Coo, I. F. M.;
Smeitink, J. A. M.;
Rodenburg, R. J. T.;
Nijtmans, L. G. J.

Publication type:

Article

Matrix metalloproteinase family polymorphisms and the risk of aortic aneurysmal diseases: A systematic review and meta-analysis.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 15, doi. 10.1111/cge.13050

By:

Li, T.;
Lv, Z.;
Jing, J.‐J.;
Yang, J.;
Yuan, Y.

Publication type:

Article

Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 134, doi. 10.1111/cge.13053

By:

Suerink, M.;
Potjer, T. P.;
Versluijs, A. B.;
ten Broeke, S. W.;
Tops, C. M.;
Wimmer, K.;
Nielsen, M.

Publication type:

Article

Increasing awareness and knowledge of lifestyle recommendations for cancer prevention in Lynch syndrome carriers: Randomized controlled trial.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 67, doi. 10.1111/cge.13076

By:

Vrieling, A.;
Visser, A.;
Hoedjes, M.;
Hurks, M.;
Gómez García, E.;
Hoogerbrugge, N.;
Kampman, E.

Publication type:

Article

Novel non-contiguous exon duplication in choroideremia.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 144, doi. 10.1111/cge.13021

By:

Edwards, T. L.;
Williams, J.;
Patrício, M. I.;
Simunovic, M. P.;
Shanks, M.;
Clouston, P.;
MacLaren, R. E.

Publication type:

Article

Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 149, doi. 10.1111/cge.13022

By:

Khan, A. O.;
Budde, B. S.;
Nürnberg, P.;
Kawalia, A.;
Lenzner, S.;
Bolz, H. J.

Publication type:

Article

Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 33, doi. 10.1111/cge.13024

By:

Ouellette, A. C.;
Mathew, J.;
Manickaraj, A. K.;
Manase, G.;
Zahavich, L.;
Wilson, J.;
George, K.;
Benson, L.;
Bowdin, S.;
Mital, S.

Publication type:

Article

Genetics of hypertrophic cardiomyopathy: A review of current state.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 3, doi. 10.1111/cge.13027

By:

Sabater‐Molina, M.;
Pérez‐Sánchez, I.;
Hernández del Rincón, J. P.;
Gimeno, J. R.

Publication type:

Article

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 182, doi. 10.1111/cge.13091

By:

Tariq, M.;
Khan, T. N.;
Lundin, L.;
Jameel, M.;
Lönnerholm, T.;
Baig, S. M.;
Dahl, N.;
Klar, J.

Publication type:

Article

Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 119, doi. 10.1111/cge.13095

By:

Al‐Obeidi, E.;
Al‐Tahan, S.;
Surampalli, A.;
Goyal, N.;
Wang, A. K.;
Hermann, A.;
Omizo, M.;
Smith, C.;
Mozaffar, T.;
Kimonis, V.

Publication type:

Article

Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 187, doi. 10.1111/cge.13099

By:

Mills, J. R.;
Moyer, A. M.;
Kipp, B. R.;
Poplawski, A. B.;
Messiaen, L. M.;
Babovic‐Vuksanovic, D.

Publication type:

Article

A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 164, doi. 10.1111/cge.13040

By:

Nirenberg, M. J.;
Chaouni, R.;
Biller, T. M.;
Gilbert, R. M.;
Paisán‐Ruiz, C.

Publication type:

Article

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 138, doi. 10.1111/cge.13047

By:

Santoro, C.;
Giugliano, T.;
Melone, M. A. B.;
Cirillo, M.;
Schettino, C.;
Bernardo, P.;
Cirillo, G.;
Perrotta, S.;
Piluso, G.

Publication type:

Article

New mutations in GJA8 expand the phenotype to include total sclerocornea.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 155, doi. 10.1111/cge.13045

By:

Ma, A. S.;
Grigg, J. R.;
Prokudin, I.;
Flaherty, M.;
Bennetts, B.;
Jamieson, R. V.

Publication type:

Article

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 78, doi. 10.1111/cge.13031

By:

Pajusalu, S.;
Kahre, T.;
Roomere, H.;
Murumets, Ü.;
Roht, L.;
Simenson, K.;
Reimand, T.;
Õunap, K.

Publication type:

Article

ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 169, doi. 10.1111/cge.13048

By:

Nizon, M.;
Küry, S.;
Péréon, Y.;
Besnard, T.;
Quinquis, D.;
Boisseau, P.;
Marsaud, T.;
Magot, A.;
Mussini, J.‐M.;
Mayrargue, E.;
Barbarot, S.;
Bézieau, S.;
Isidor, B.

Publication type:

Article

Mutation screening of 10 cancer susceptibility genes in unselected breast cancer patients.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 41, doi. 10.1111/cge.13063

By:

Xie, Y.;
Li, G.;
Chen, M.;
Guo, X.;
Tang, L.;
Luo, X.;
Wang, S.;
Yi, W.;
Dai, L.;
Wang, J.

Publication type:

Article

Performance of BRCA1/2 mutation prediction models in male breast cancer patients.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 52, doi. 10.1111/cge.13065

By:

Moghadasi, S.;
Grundeken, V.;
Janssen, L. A. M.;
Dijkstra, N. H.;
Rodríguez‐Girondo, M.;
van Zelst‐Stams, W. A. G.;
Oosterwijk, J. C.;
Ausems, M. G. E. M.;
Oldenburg, R. A.;
Adank, M. A.;
Blom, E. W.;
Ruijs, M. W. G.;
van Os, T. A. M.;
van Deurzen, C. H. M.;
Martens, J. W. M.;
Schroder, C. P.;
Wijnen, J. T.;
Vreeswijk, M. P. G.;
van Asperen, C. J.

Publication type:

Article

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 160, doi. 10.1111/cge.13018

By:

Reinstein, E.;
Drasinover, V.;
Lotan, R.;
Gal‐Tanamy, M.;
Bolocan Nachman, I.;
Eyal, E.;
Jaber, L.;
Magal, N.;
Shohat, M.

Publication type:

Article

Functional analysis of p.Ala253_Leu254insAsn mutation in PLS3 responsible for X-linked osteoporosis.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 178, doi. 10.1111/cge.13081

By:

Wang, L.;
Zhai, Q.;
Zhao, P.;
Xiang, X.;
Zhang, X.;
Tian, W.;
Li, T.

Publication type:

Article

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 126, doi. 10.1111/cge.13032

By:

Ritelli, M.;
Morlino, S.;
Giacopuzzi, E.;
Bernardini, L.;
Torres, B.;
Santoro, G.;
Ravasio, V.;
Chiarelli, N.;
D'Angelantonio, D.;
Novelli, A.;
Grammatico, P.;
Colombi, M.;
Castori, M.

Publication type:

Article

PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 84, doi. 10.1111/cge.13033

By:

Abdel‐Hamid, M. S.;
Issa, M. Y.;
Otaify, G. A.;
Abdel‐Ghafar, S. F.;
Elbendary, H. M.;
Zaki, M. S.

Publication type:

Article

Association of combined GIF290T>C heterozygous mutation/ FUT2 secretor variant with neural tube defects.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 191, doi. 10.1111/cge.13104

By:

Guéant‐Rodriguez, R. M.;
Chery, C.;
Caillierez‐Fofou, B.‐M.;
Voirin, J.;
Foliguet, B.;
Josse, T.;
Tramoy, D.;
Feillet, F.;
Guéant, J.‐L.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2018, v. 93, n. 1, p. 1, doi. 10.1111/cge.13108
Publication type:: Article