Works matching IS 00099163 AND DT 2019 AND VI 95 AND IP 2

Results: 22

Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 320, doi. 10.1111/cge.13482

By:

Kotan, Leman D.;
Isik, Emregul;
Turan, Ihsan;
Mengen, Eda;
Akkus, Gamze;
Tastan, Mehmet;
Gurbuz, Fatih;
Yuksel, Bilgin;
Topaloglu, A. Kemal

Publication type:

Article

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481

By:

Alshenaifi, Jumanah;
Ewida, Nour;
Anazi, Shams;
Shamseldin, Hanan E.;
Patel, Nisha;
Maddirevula, Sateesh;
Al‐Sheddi, Tarfa;
Alomar, Rana;
Alobeid, Eman;
Ibrahim, Niema;
Hashem, Mais;
Abdulwahab, Firdous;
Jacob, Minnie;
Alhashem, Amal;
Alzaidan, Hamad I.;
Seidahmed, Mohammed Z.;
Alhashemi, Nadia;
Rawashdeh, Rifaat;
Eyaid, Wafaa;
Al‐Hassnan, Zuhair N.

Publication type:

Article

Genetics meets DNA methylation in rare diseases.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 210, doi. 10.1111/cge.13480

By:

Velasco, Guillaume;
Francastel, Claire

Publication type:

Article

Genetic risk score modifies the effect of APOE on risk and age onset of Alzheimer's disease.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 302, doi. 10.1111/cge.13479

By:

Shi, Zhuqing;
Yu, Hongjie;
Wu, Yishuo;
Ford, Madison;
Perschon, Chelsea;
Wang, Chihsiung;
Zheng, Siqun L.;
Xu, Jianfeng

Publication type:

Article

Correction to: Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Published in:

2019

By:

Park, J.;
Jeong, D.‐C.;
Yoo, J.;
Jang, W.;
Chae, H.;
Kim, J.;
Kwon, A.;
Choi, H.;
Lee, J.W.;
Chung, N.‐G.;
Kim, M.;
Kim, Y.

Publication type:

Correction Notice

Preferences for in‐person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 293, doi. 10.1111/cge.13474

By:

Beri, Nina;
Patrick‐Miller, Linda J.;
Egleston, Brian L.;
Hall, Michael J.;
Domchek, Susan M.;
Daly, Mary B.;
Ganschow, Pamela;
Grana, Generosa;
Olopade, Olufunmilayo I.;
Fetzer, Dominique;
Brandt, Amanda;
Chambers, Rachelle;
Clark, Dana F.;
Forman, Andrea;
Gaber, Rikki;
Gulden, Cassandra;
Horte, Janice;
Long, Jessica;
Lucas, Terra;
Madaan, Shreshtha

Publication type:

Article

Phenotero: Annotate as you write.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 287, doi. 10.1111/cge.13471

By:

Hombach, Daniela;
Schwarz, Jana M.;
Knierim, Ellen;
Schuelke, Markus;
Seelow, Dominik;
Köhler, Sebastian

Publication type:

Article

Fragile X syndrome and connective tissue dysregulation.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 262, doi. 10.1111/cge.13469

By:

Ramírez‐Cheyne, Julián A.;
Duque, Gustavo A.;
Ayala‐Zapata, Sebastián;
Saldarriaga‐Gil, Wilmar;
Hagerman, Paul;
Hagerman, Randi;
Payán‐Gómez, César

Publication type:

Article

A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 339, doi. 10.1111/cge.13466

By:

Tejada, María‐Isabel;
Elcoroaristizabal, Xabier;
Ibarluzea, Nekane;
Botella, María‐Pilar;
de la Hoz, Ana‐Belén;
Ocio, Intzane

Publication type:

Article

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 325, doi. 10.1111/cge.13465

By:

Chan, Tin K.;
Alkaabi, Mohammed K.;
ElBarky, Ahmed M.;
El‐Hattab, Ayman W.

Publication type:

Article

Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.

Published in:

2019

By:

Dardis, Andrea;
Pianta, Annalisa;
Zampieri, Stefania;
Zanin, Irene;
Bertoli, Marta;
Cazzagon, Monica;
Bregant, Elisa;
Damante, Giuseppe;
Bembi, Bruno;
Ciana, Giovanni

Publication type:

Case Study

Biallelic mutations in PMFBP1 cause acephalic spermatozoa.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 277, doi. 10.1111/cge.13461

By:

Sha, Yan‐Wei;
Wang, Xiong;
Xu, Xiaohui;
Ding, Lu;
Liu, Wen‐Sheng;
Li, Ping;
Su, Zhi‐Ying;
Chen, Jing;
Mei, Li‐Bin;
Zheng, Liang‐Kai;
Wang, Hai‐Long;
Kong, Shuang‐Bo;
You, Min;
Wu, Jian‐Feng

Publication type:

Article

Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 334, doi. 10.1111/cge.13456

By:

Yates, T. Michael;
Langley, Claire L.M.;
Grozeva, Detelina;
Raymond, F. Lucy;
Johnson, Diana S.

Publication type:

Article

Complex effects of laminopathy mutations on nuclear structure and function.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 199, doi. 10.1111/cge.13455

By:

Ho, Rosettia;
Hegele, Robert A.

Publication type:

Article

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 329, doi. 10.1111/cge.13453

By:

Méjécase, Cécile;
Hummel, Aurélie;
Mohand‐Saïd, Saddek;
Andrieu, Camille;
El Shamieh, Said;
Antonio, Aline;
Condroyer, Christel;
Boyard, Fiona;
Foussard, Marine;
Blanchard, Steven;
Letexier, Mélanie;
Saraiva, Jean‐Paul;
Sahel, José‐Alain;
Zeitz, Christina;
Audo, Isabelle

Publication type:

Article

Linking genetics to epigenetics: The role of folate and folate‐related pathways in neurodevelopmental disorders.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 241, doi. 10.1111/cge.13421

By:

Lintas, C.

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2019, v. 95, n. 2, p. 187, doi. 10.1111/cge.13394
Publication type:: Article

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 268, doi. 10.1111/cge.13375

By:

Digilio, M.C.;
Pugnaloni, F.;
De Luca, A.;
Calcagni, G.;
Baban, A.;
Dentici, M.L.;
Versacci, P.;
Dallapiccola, B.;
Tartaglia, M.;
Marino, B.

Publication type:

Article

Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 231, doi. 10.1111/cge.13365

By:

Larizza, L.;
Finelli, P.

Publication type:

Article

Three‐dimensional genome architecture in health and disease.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 189, doi. 10.1111/cge.13219

By:

Ouimette, J.‐F.;
Rougeulle, C.;
Veitia, R.A.

Publication type:

Article

Clinician's guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 221, doi. 10.1111/cge.13153

By:

Schönewolf‐Greulich, B.;
Bisgaard, A‐M.;
Møller, R.S.;
Dunø, M.;
Brøndum‐Nielsen, K.;
Kaur, S.;
Van Bergen, N.J.;
Lunke, S.;
Eggers, S.;
Jespersgaard, C.;
Christodoulou, J.;
Tümer, Z.

Publication type:

Article

Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 253, doi. 10.1111/cge.13127

By:

Lonardo, F.;
Lonardo, M.S.;
Acquaviva, F.;
Della Monica, M.;
Scarano, F.;
Scarano, G.

Publication type:

Article