Works matching IS 00099163 AND DT 2018 AND VI 94 AND IP 2

Results: 16

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 264, doi. 10.1111/cge.13383
By:
- Lévy, J.;
- Grotto, S.;
- Mignot, C.;
- Maruani, A.;
- Delahaye‐Duriez, A.;
- Benzacken, B.;
- Keren, B.;
- Haye, D.;
- Xavier, J.;
- Heulin, M.;
- Charles, E.;
- Verloes, A.;
- Dupont, C.;
- Pipiras, E.;
- Tabet, A.‐C.
Publication type:
Article
Risk communication in genetic counseling: Exploring uptake and perception of recurrence numbers, and their impact on patient outcomes.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 239, doi. 10.1111/cge.13379
By:
- Borle, K.;
- Morris, E.;
- Inglis, A.;
- Austin, J.
Publication type:
Article
Discovery of 4 exonic and 1 intergenic novel susceptibility loci for leprosy.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 259, doi. 10.1111/cge.13376
By:
- Wang, Z.;
- Mi, Z.;
- Wang, H.;
- Sun, L.;
- Yu, G.;
- Fu, X.;
- Wang, C.;
- Bao, F.;
- Yue, Z.;
- Zhao, Q.;
- Wang, N.;
- Cheng, X.;
- Liu, H.;
- Zhang, F.
Publication type:
Article
Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 232, doi. 10.1111/cge.13371
By:
- Kunii, M.;
- Doi, H.;
- Ishii, Y.;
- Ohba, C.;
- Tanaka, K.;
- Tada, M.;
- Fukai, R.;
- Hashiguchi, S.;
- Kishida, H.;
- Ueda, N.;
- Kudo, Y.;
- Kugimoto, C.;
- Nakano, T.;
- Udaka, N.;
- Miyatake, S.;
- Miyake, N.;
- Saitsu, H.;
- Ito, Y.;
- Takahashi, K.;
- Nakamura, H.
Publication type:
Article
Refining the phenotype associated with biallelic DNAJC21 mutations.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 252, doi. 10.1111/cge.13370
By:
- D'Amours, G.;
- Lopes, F.;
- Gauthier, J.;
- Saillour, V.;
- Nassif, C.;
- Wynn, R.;
- Alos, N.;
- Leblanc, T.;
- Capri, Y.;
- Nizard, S.;
- Lemyre, E.;
- Michaud, J. L.;
- Pelletier, V.‐A.;
- Pastore, Y. D.;
- Soucy, J.‐F.
Publication type:
Article
Expanding the clinical spectrum of biallelic ZNF335 variants.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 246, doi. 10.1111/cge.13260
By:
- Stouffs, K.;
- Stergachis, A. B.;
- Vanderhasselt, T.;
- Dica, A.;
- Janssens, S.;
- Vandervore, L.;
- Gheldof, A.;
- Bodamer, O.;
- Keymolen, K.;
- Seneca, S.;
- Liebaers, I.;
- Jayaraman, D.;
- Hill, H. E.;
- Partlow, J. N.;
- Walsh, C. A.;
- Jansen, A. C.
Publication type:
Article
Confirmation of SLC5A7‐related distal hereditary motor neuropathy 7 in a family outside Wales.
Published in:
2018
By:
- Hamanaka, K.;
- Takahashi, K.;
- Miyatake, S.;
- Mitsuhashi, S.;
- Hamanoue, H.;
- Miyaji, Y.;
- Fukai, R.;
- Doi, H.;
- Fujita, A.;
- Imagawa, E.;
- Iwama, K.;
- Nakashima, M.;
- Mizuguchi, T.;
- Takata, A.;
- Miyake, N.;
- Takeuchi, H.;
- Tanaka, F.;
- Matsumoto, N.
Publication type:
Case Study
Clinical and molecular insights into Glanzmann's thrombasthenia in China.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 213, doi. 10.1111/cge.13366
By:
- Zhou, L.;
- Jiang, M.;
- Shen, H.;
- You, T.;
- Ding, Z.;
- Cui, Q.;
- Ma, Z.;
- Yang, F.;
- Xie, Z.;
- Shi, H.;
- Su, J.;
- Cao, L.;
- Lin, J.;
- Yin, J.;
- Dai, L.;
- Wang, H.;
- Wang, Z.;
- Yu, Z.;
- Ruan, C.;
- Xia, L.
Publication type:
Article
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 200, doi. 10.1111/cge.13363
By:
- Chen, X.;
- Wang, F.;
- Zhang, Y.;
- Teng, W.;
- Wang, M.;
- Nie, D.;
- Zhou, X.;
- Wang, D.;
- Zhao, H.;
- Zhu, P.;
- Liu, H.
Publication type:
Article
Polymorphisms of genes involved in inflammation and blood vessel development influence the risk of varicose veins.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 191, doi. 10.1111/cge.13362
By:
- Shadrina, A.;
- Tsepilov, Y.;
- Smetanina, M.;
- Voronina, E.;
- Seliverstov, E.;
- Ilyukhin, E.;
- Kirienko, A.;
- Zolotukhin, I.;
- Filipenko, M.
Publication type:
Article
New case of bilateral pheochromocytomas involving the homozygous TMEM127 mutation.
Published in:
2018
By:
- Laboureau, S.;
- Guichet, A.;
- Duriez, T.;
- Veyrat‐Durebex, C.;
- Bouzamondo, N.;
- Briet, C.;
- Mirebeau‐Prunier, D.
Publication type:
Case Study
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 221, doi. 10.1111/cge.13368
By:
- Wesdorp, M.;
- Schreur, V.;
- Beynon, A. J.;
- Oostrik, J.;
- van de Kamp, J. M.;
- Elting, M. W.;
- van den Boogaard, M.‐J.H.;
- Feenstra, I.;
- Admiraal, R. J. C.;
- Kunst, H. P. M.;
- Hoyng, C. B.;
- Kremer, H.;
- Yntema, H. G.;
- Pennings, R. J. E.;
- Schraders, M.
Publication type:
Article
A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault‐like syndrome with renal defects.
Published in:
2018
By:
- Demain, L. A. M.;
- Antunes, D.;
- O'Sullivan, J.;
- Bhaskhar, S. S.;
- O'Keefe, R. T.;
- Newman, W. G.
Publication type:
Case Study
A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts‐1 in north Indian kindred.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 271, doi. 10.1111/cge.13251
By:
- Vellarikkal, S. K.;
- Jayarajan, R.;
- Verma, A.;
- Ravi, R.;
- Senthilvel, V.;
- Kumar, A.;
- Saini, L.;
- Gulati, S.;
- Lal, M.;
- Mathur, A.;
- Chhetri, M. K.;
- Faruq, M.;
- Scaria, V.;
- Sivasubbu, S.
Publication type:
Article
Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 269, doi. 10.1111/cge.13248
By:
- Wu, Q.;
- Wang, C.;
- Shi, H.;
- Mei, S.;
- Liu, L.;
- Xin, Y.;
- Kong, X.
Publication type:
Article
Issue Information ‐ Editorial Board.
Published in:
Clinical Genetics, 2018, v. 94, n. 2, p. 189, doi. 10.1111/cge.13115
Publication type:
Article