Works matching IS 00099163 AND DT 2018 AND VI 94 AND IP 1

Results: 23

Systematic reanalysis of genomic data improves quality of variant interpretation.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 174, doi. 10.1111/cge.13259

By:

Hiatt, S. M.;
Amaral, M. D.;
Bowling, K. M.;
Finnila, C. R.;
Thompson, M. L.;
Gray, D. E.;
Lawlor, J. M. J.;
Cochran, J. N.;
Bebin, E. M.;
Brothers, K. B.;
East, K. M.;
Kelley, W. V.;
Lamb, N. E.;
Levy, S. E.;
Lose, E. J.;
Neu, M. B.;
Rich, C. A.;
Simmons, S.;
Myers, R. M.;
Barsh, G. S.

Publication type:

Article

Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 125, doi. 10.1111/cge.13249

By:

Fujimaru, T.;
Mori, T.;
Sekine, A.;
Mandai, S.;
Chiga, M.;
Kikuchi, H.;
Ando, F.;
Mori, Y.;
Nomura, N.;
Iimori, S.;
Naito, S.;
Okado, T.;
Rai, T.;
Hoshino, J.;
Ubara, Y.;
Uchida, S.;
Sohara, E.

Publication type:

Article

Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai‐Barrow syndrome.

Published in:

2018

By:

Anglani, F.;
Terrin, L.;
Brugnara, M.;
Battista, M.;
Cantaluppi, V.;
Ceol, M.;
Bertoldi, L.;
Valle, G.;
Joy, M. P.;
Pober, B. R.;
Longoni, M.

Publication type:

Case Study

TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 170, doi. 10.1111/cge.13258

By:

Suleiman, J.;
Mundt, M.;
Sampath, S.;
El‐hattab, A. W.

Publication type:

Article

Splice‐site mutations in VEGFC cause loss of function and Nonne‐Milroy‐like primary lymphedema.

Published in:

2018

By:

Fastré, E.;
Lanteigne, L‐e.;
Helaers, R.;
Giacalone, G.;
Revencu, N.;
Dionyssiou, D.;
Demiri, E.;
Brouillard, P.;
Vikkula, M.

Publication type:

Case Study

Clinical implication of FMR1 intermediate alleles in a Spanish population.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 153, doi. 10.1111/cge.13257

By:

Alvarez‐mora, M. I.;
Madrigal, I.;
Martinez, F.;
Tejada, M.‐i.;
Izquierdo‐alvarez, S.;
Sanchez‐villar De Saz, P.;
Caro‐llopis, A.;
Villate, O.;
Rodríguez‐santiago, B.;
Pérez Jurado, L. A.;
Rodriguez‐revenga, L.;
Milà, M.

Publication type:

Article

Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 132, doi. 10.1111/cge.13250

By:

Marmontel, O.;
Charrière, S.;
Simonet, T.;
Bonnet, V.;
Dumont, S.;
Mahl, M.;
Jacobs, C.;
Nony, S.;
Chabane, K.;
Bozon, D.;
Janin, A.;
Peretti, N.;
Lachaux, A.;
Bardel, C.;
Millat, G.;
Moulin, P.;
Marçais, C.;
Di Filippo, M.

Publication type:

Article

Prevalence of BRCA1/2 large genomic rearrangements in Chinese women with sporadic triple‐negative or familial breast cancer.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 165, doi. 10.1111/cge.13256

By:

Su, L.;
Zhang, J.;
Meng, H.;
Ouyang, T.;
Li, J.;
Wang, T.;
Fan, Z.;
Fan, T.;
Lin, B.;
Xie, Y.

Publication type:

Article

Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Published in:

2018

By:

Baer, S.;
Afenjar, A.;
Smol, T.;
Piton, A.;
Gérard, B.;
Alembik, Y.;
Bienvenu, T.;
Boursier, G.;
Boute, O.;
Colson, C.;
Cordier, M.‐p.;
Cormier‐daire, V.;
Delobel, B.;
Doco‐fenzy, M.;
Duban‐bedu, B.;
Fradin, M.;
Geneviève, D.;
Goldenberg, A.;
Grelet, M.;
Haye, D.

Publication type:

Case Study

Worldwide distribution of common IDUA pathogenic variants.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 95, doi. 10.1111/cge.13224

By:

Poletto, E.;
Pasqualim, G.;
Giugliani, R.;
Matte, U.;
Baldo, G.

Publication type:

Article

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Published in:

2018

By:

Salian, S.;
Shukla, A.;
Shah, H.;
Bhat, S. N.;
Bhat, V. R.;
Nampoothiri, S.;
Shenoy, R.;
Phadke, S. R.;
Hariharan, S. V.;
Girisha, K. M.

Publication type:

Case Study

Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 81, doi. 10.1111/cge.13223

By:

Gangemi, S.;
Manti, S.;
Procopio, V.;
Casciaro, M.;
Di Salvo, E.;
Cutrupi, M.;
Ganci, G.;
Salpietro, C.;
Chimenz, R.;
Cuppari, C.

Publication type:

Article

Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia‐oculomotor apraxia 4 and pilocytic astrocytoma.

Published in:

2018

By:

Scholz, C.;
Golas, M. M.;
Weber, R. G.;
Hartmann, C.;
Lehmann, U.;
Sahm, F.;
Schmidt, G.;
Auber, B.;
Sturm, M.;
Schlegelberger, B.;
Illig, T.;
Steinemann, D.;
Hofmann, W.

Publication type:

Case Study

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

Published in:

2018

By:

Bruel, A.‐l.;
Thevenon, J.;
Huet, F.;
Jean‐marcais, N.;
Odent, S.;
Dubourg, C.;
Lehalle, D.;
Tran Mau‐them, F.;
Philippe, C.;
Moutton, S.;
Houcinat, N.;
Gay, S.;
Guibaud, L.;
Duffourd, Y.;
Rivière, J.‐b.;
Faivre, L.;
Thauvin‐robinet, C.

Publication type:

Case Study

Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 103, doi. 10.1111/cge.13229

By:

Michałus, I.;
Rusińska, A.

Publication type:

Article

Genetics of patella hypoplasia/agenesis.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 43, doi. 10.1111/cge.13209

By:

Vanlerberghe, C.;
Boutry, N.;
Petit, F.

Publication type:

Article

The changing landscape of Lynch syndrome due to PMS2 mutations.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 61, doi. 10.1111/cge.13205

By:

Blount, J.;
Prakash, A.

Publication type:

Article

Review of patient decision‐making factors and attitudes regarding preimplantation genetic diagnosis.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 22, doi. 10.1111/cge.13174

By:

Genoff Garzon, M. C.;
Rubin, L. R.;
Lobel, M.;
Stelling, J.;
Pastore, L. M.

Publication type:

Article

Diagnosis and genetics of alacrima.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 54, doi. 10.1111/cge.13173

By:

Adams, J.;
Schaaf, C. P.

Publication type:

Article

Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 115, doi. 10.1111/cge.13167

By:

Harper, P. S.

Publication type:

Article

Cell‐free DNA noninvasive prenatal screening for aneuploidy versus conventional screening: A systematic review of economic evaluations.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 3, doi. 10.1111/cge.13155

By:

Nshimyumukiza, L.;
Menon, S.;
Hina, H.;
Rousseau, F.;
Reinharz, D.

Publication type:

Article

Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 70, doi. 10.1111/cge.13154

By:

Gamou, S.;
Kataoka, M.;
Aimi, Y.;
Chiba, T.;
Momose, Y.;
Isobe, S.;
Hirayama, T.;
Yoshino, H.;
Fukuda, K.;
Satoh, T.

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2018, v. 94, n. 1, p. 1, doi. 10.1111/cge.13114
Publication type:: Article