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

Results: 30

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
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
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
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>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
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
<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
Erratum.
Published in:
2018
Publication type:
Correction Notice
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
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
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
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
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
<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
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
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