Works matching IS 00099163 AND DT 2018 AND VI 93 AND IP 5

Results: 30

Autosomal‐dominant myopia associated to a novel <italic>P4HA2</italic> missense variant and defective collagen hydroxylation.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 982, doi. 10.1111/cge.13217

By:

Gianfrancesco, F.;
Napolitano, F.;
Esposito, T.;
Lombardi, L.;
Farina, O.;
Di Iorio, G.;
Sampaolo, S.;
Melone, M. A. B.;
Di Iorio, V.;
Testa, F.;
Simonelli, F.;
Tirozzi, A.;
Reccia, M. G.

Publication type:

Article

Expanding the phenotype of <italic>SLC25A42</italic>‐associated mitochondrial encephalomyopathy.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1097, doi. 10.1111/cge.13210

By:

Almannai, M.;
Alasmari, A.;
Faqeih, E.;
Alqasmi, A.;
Alotaibi, M.;
Al Mutairi, F.;
Eyaid, W.;
Samman, M. M.;
Aljadhai, Y. I.;
Shamseldin, H. E.;
Alkuraya, F. S.;
Craigen, W.

Publication type:

Article

Disclosure of cardiac variants of uncertain significance results in an exome cohort.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1022, doi. 10.1111/cge.13220

By:

Lawal, T. A.;
Lewis, K. L.;
Johnston, J. J.;
Ng, D.;
Biesecker, L. G.;
Heidlebaugh, A. R.;
Biesecker, B. B.;
Gaston‐Johansson, F. G.;
Klein, W. M. P.

Publication type:

Article

<italic>NDUFAF3</italic> variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1103, doi. 10.1111/cge.13215

By:

Komaki, H.;
Sasaki, M.;
Ishiyama, A.;
Nishino, I.;
Makioka, N.;
Ogata, T.;
Suzuki, E.;
Muramatsu, K.;
Sakai, C.;
Matsushima, Y.;
Goto, Y.‐I.;
Uchino, S.;
Mimaki, M.

Publication type:

Article

Correction to: PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing.

Published in:

2018

By:

Biesecker, B. B.;
Woolford, S. W.;
Klein, W. M. P.;
Brothers, K. B.;
Umstead, K. L.;
Lewis, K. L.;
Biesecker, L. G.;
Han, P. K. J.

Publication type:

Correction Notice

Spectrum of APC and MUTYH germ‐line mutations in Russian patients with colorectal malignancies.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1015, doi. 10.1111/cge.13228

By:

Aleksakhina, S. N.;
Mitiushkina, N. V.;
Kuligina, E.Sh.;
Venina, A. R.;
Zaitseva, O. A.;
Yatsuk, O. S.;
Togo, A. V.;
Yanus, G. A.;
Akhapkina, T. A.;
Ivantsov, A. O.;
Preobrazhenskaya, E. V.;
Sokolenko, A. P.;
Suspitsin, E. N.;
Holmatov, M. M.;
Iyevleva, A. G.;
Imyanitov, E. N.;
Belyaev, A. M.;
Bizin, I. V.;
Pashkov, D. V.

Publication type:

Article

Expanding the clinical and genetic spectra of <italic>NKX6‐2</italic>‐related disorder.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1087, doi. 10.1111/cge.13221

By:

Baldi, C.;
Bertoli‐Avella, A. M.;
Yavuz, H.;
Kandaswamy, K. K.;
Brandau, O.;
Bauer, P.;
Rolfs, A.;
Al‐Hakami, F.;
Al‐Sannaa, N.;
Alfadhel, M.;
Al‐Thihli, K.;
Alameer, S.;
Shawli, A.;
Elmonairy, A. A.;
Al Shamsi, A. M.;
Abdelrahman, H. A.;
Al‐Gazali, L.

Publication type:

Article

Phenotypic characterization of <italic>KCTD3</italic>‐related developmental epileptic encephalopathy.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1081, doi. 10.1111/cge.13227

By:

Faqeih, E. A.;
Almannai, M.;
Saleh, M. M.;
AlWadei, A. H.;
Samman, M. M.;
Alkuraya, F. S.

Publication type:

Article

SAAMP 2.0: An algorithm to predict genotype‐phenotype correlation of lysosomal storage diseases.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1008, doi. 10.1111/cge.13226

By:

Ou, L.;
Whitley, C. B.;
Przybilla, M. J.

Publication type:

Article

De novo variants in <italic>CDK13</italic> associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1000, doi. 10.1111/cge.13225

By:

van den Akker, W. M. R.;
Brummelman, I.;
Martis, L. M.;
Timmermans, R. N.;
Pfundt, R.;
Kleefstra, T.;
Willemsen, M. H.;
de Vries, B. B. A.;
Schuurs‐Hoeijmakers, J. H. M.;
Gerkes, E. H.;
Herkert, J. C.;
van Essen, A. J.;
Rump, P.;
Vansenne, F.;
Terhal, P. A.;
van Gassen, K. L. I.;
van Haelst, M. M.;
Cristian, I.;
Turner, C. E.;
Cho, M. T.

Publication type:

Article

Correction to: Reassessing the clinical spectrum associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma syndrome in French <italic>FH</italic> mutation carriers.

Published in:

2018

By:

Muller, M.;
Guillaud‐Bataille, M.;
Richard, S.;
Benusiglio, P. R.

Publication type:

Correction Notice

Erratum.

Published in:: 2018
Publication type:: Correction Notice

Identification of a single MPV17 nonsense‐associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1093, doi. 10.1111/cge.13208

By:

Meldau, S.;
Marais, A. D.;
Van der Watt, G. F.;
De Lacy, R. J.;
Goddard, E. A.;
Riordan, G. T. M.;
Pillay, K.;
Fieggen, K. J.

Publication type:

Article

<italic>WNT10B</italic> mutations associated with isolated dental anomalies.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 992, doi. 10.1111/cge.13218

By:

Kaewgahya, M.;
Intachai, W.;
German, R.;
Kantaputra, P. N.;
Hutsadaloi, A.;
Koparal, M.;
Leethanakul, C.;
Tolun, A.;
Ketudat Cairns, J. R.

Publication type:

Article

UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003‐2013).

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 972, doi. 10.1111/cge.13207

By:

Szczepura, A.;
Wynn, S.;
Searle, B.;
Khan, A. J.;
Elliott, J.;
Palmer, T.;
Biggerstaff, D.;
Hultén, M. A.

Publication type:

Article

Patient actions and reactions after receiving negative results from expanded carrier screening.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 962, doi. 10.1111/cge.13206

By:

Porter, K. M.;
Kraft, S. A.;
Wilfond, B. S.;
Schneider, J. L.;
Leo, M. C.;
Kauffman, T. L.;
Davis, J. V.;
McMullen, C. K.;
Goddard, K. A. B.

Publication type:

Article

Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1057, doi. 10.1111/cge.13203

By:

Maver, A.;
Writzl, K.;
Hodžić, A.;
Peterlin, B.;
Tumienė, B.;
Čuturilo, G.;
Kuzmanić‐Šamija, R.;
Čulić, V.

Publication type:

Article

Homozygous <italic>TMEM127</italic> mutations in 2 patients with bilateral pheochromocytomas.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1049, doi. 10.1111/cge.13202

By:

Eijkelenkamp, K.;
Kerstens, M. N.;
Links, T. P.;
van der Horst‐Schrivers, A. N. A.;
Olderode‐Berends, M. J. W.;
van der Luijt, R. B.;
Robledo, M.;
van Dooren, M.;
Feelders, R. A.;
de Vries, J.

Publication type:

Article

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1039, doi. 10.1111/cge.13200

By:

Wynn, J.;
Ahimaz, P.;
Martinez, J.;
Lichter‐Konecki, U.;
Anyane‐Yeboa, K.;
Iglesias, A.;
Chung, W. K.;
Ottman, R.;
Duong, J.;
Wilson, A. L.;
Au, C.;
Egan, C.;
Guzman, E.;
Primiano, M.;
Shaw, J. E.;
Sisson, R.;
Cho, M. T.;
Rabin, R.;
Rosen, E.;
Webster, R.

Publication type:

Article

De novo variants in <italic>KLF7</italic> are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1030, doi. 10.1111/cge.13198

By:

Powis, Z.;
Petrik, I.;
Huether, R.;
Tang, S.;
Shinde, D. N.;
Cohen, J. S.;
Escolar, D.;
Burton, J.;
van Ravenswaaij‐Arts, C. M. A.;
Sival, D. A.;
Kleefstra, T.;
Pfundt, R.;
Stegmann, A. P. A.;
Chikarmane, R.;
Begtrup, A.

Publication type:

Article

Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA‐related overgrowth spectrum.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1075, doi. 10.1111/cge.13195

By:

Michel, M. E.;
Murillo, R.;
Huang, A. Y.;
Warman, M. L.;
Konczyk, D. J.;
Vivero, M. P.;
Yeung, K. S.;
Chung, B. H. Y.;
Hall, A. M.;
Zurakowski, D.;
Adams, D.;
Gupta, A.

Publication type:

Article

A <italic>de novo</italic> loss‐of‐function <italic>DYNC1H1</italic> mutation in a patient with parkinsonian features and a favourable response to levodopa.

Published in:

2018

By:

Szczałuba, K.;
Rydzanicz, M.;
Walczak, A.;
Kosińska, J.;
Jacoszek, A.;
Biernacka, A.;
Gasperowicz, P.;
Płoski, R.;
Szymańska, K.;
Ciara, E.;
Piekutowska‐Abramczuk, D.;
Pronicka, E.;
Czerska, K.;
Laure‐Kamionowska, M.

Publication type:

Case Study

Issue Information ‐ Editorial Board.

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

Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 943, doi. 10.1111/cge.13094

By:

Panneman, D. M.;
Smeitink, J. A.;
Rodenburg, R. J.

Publication type:

Article

Collective effects of common single nucleotide polymorphisms and genetic risk prediction in type 1 diabetes.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1069, doi. 10.1111/cge.13193

By:

Gui, Y.;
Lei, X.;
Huang, S.

Publication type:

Article

<italic>CKAP2L</italic> mutation confirms the diagnosis of Filippi syndrome.

Published in:

2018

By:

Capecchi, G.;
Ferranti, S.;
Guidoni, E.;
Cioni, M.;
Grosso, S.;
Baldassarri, M.;
Renieri, A.;
Mencarelli, M. A.;
Nürnberg, P.

Publication type:

Letter to the Editor

The risk of breast cancer in <italic>BRCA1</italic> and <italic>BRCA2</italic> mutation carriers without a first‐degree relative with breast cancer.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1063, doi. 10.1111/cge.13191

By:

and the Hereditary Breast Cancer Clinical Study Group;
Metcalfe, K. A.;
Senter, L.;
Narod, S. A.;
Eisen, A.;
Sun, P.;
Lubinski, J.;
Gronwald, J.;
Huzarski, T.;
McCuaig, J.;
Lynch, H. T.;
Karlan, B.;
Foulkes, W. D.;
Singer, C. F.;
Neuhausen, S. L.

Publication type:

Article

Tylosis associated with squamous cell carcinoma of the oesophagus (TOC): Report of an African family with a novel <italic>RHBDF2</italic> variant.

Published in:

2018

By:

Mokoena, T.;
Smit, J. G. M.;
Karusseit, V. O.;
Dorfling, C. M.;
van Rensburg, E. J.

Publication type:

Letter to the Editor

Are all Xq26.2 duplications overlapping <italic>GPC3</italic> on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?

Published in:

2018

By:

Hammouche, E.;
Cottereau, E.;
Vuillaume, M.‐L.;
Moizard, M.‐P.;
Toutain, A.;
Delrue, M.‐A.;
Maftei, C.;
Perrin, L.;
Baumann, C.;
Dupont, C.;
Drunat, S.

Publication type:

Case Study

Genetic and epigenetic insights into uveal melanoma.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 952, doi. 10.1111/cge.13136

By:

Stei, M. M.;
Holz, F. G.;
Loeffler, K. U.;
Herwig‐Carl, M. C.;
Sharma, A.;
Fröhlich, H.

Publication type:

Article