Works matching IS 00099163 AND DT 2017 AND VI 91 AND IP 2

Results: 22

Expanding the genotypic spectrum of Perrault syndrome.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 302, doi. 10.1111/cge.12776
By:
- Demain, L.A.M.;
- Urquhart, J.E.;
- O'Sullivan, J.;
- Williams, S.G.;
- Bhaskar, S.S.;
- Jenkinson, E.M.;
- Lourenco, C.M.;
- Heiberg, A.;
- Pearce, S.H.;
- Shalev, S.A.;
- Yue, W.W.;
- Mackinnon, S.;
- Munro, K.J.;
- Newbury‐Ecob, R.;
- Becker, K.;
- Kim, M.J.;
- O' Keefe, R.T.;
- Newman, W.G.
Publication type:
Article
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 333, doi. 10.1111/cge.12794
By:
- Bruel, A.‐L.;
- Masurel‐Paulet, A.;
- Rivière, J.‐B.;
- Duffourd, Y.;
- Lehalle, D.;
- Bensignor, C.;
- Huet, F.;
- Borgnon, J.;
- Roucher, F.;
- Kuentz, P.;
- Deleuze, J.‐F.;
- Thauvin‐Robinet, C.;
- Faivre, L.;
- Thevenon, J.
Publication type:
Article
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 339, doi. 10.1111/cge.12840
By:
- Radvanszky, J.;
- Hyblova, M.;
- Durovcikova, D.;
- Hikkelova, M.;
- Fiedler, E.;
- Kadasi, L.;
- Turna, J.;
- Minarik, G.;
- Szemes, T.
Publication type:
Article
Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 313, doi. 10.1111/cge.12857
By:
- Wang, X.;
- Jin, H.;
- Han, F.;
- Cui, Y.;
- Chen, J.;
- Yang, C.;
- Zhu, P.;
- Wang, W.;
- Jiao, G.;
- Hao, C.;
- Gao, Z.
Publication type:
Article
The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 173, doi. 10.1111/cge.12862
By:
- Elzaiat, M.;
- Todeschini, A.‐L.;
- Caburet, S.;
- Veitia, R.A.
Publication type:
Article
The impact of an expanded genetic testing program and selective oophorectomy on the incidence of ovarian cancer in West Pomerania.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 322, doi. 10.1111/cge.12865
By:
- Menkiszak, J.;
- Sopik, V.;
- Chudecka‐Głaz, A.;
- Domagała, W.;
- Urasińska, E.;
- Symonowicz, H.;
- Majdanik, E.;
- Waloszczyk, P.;
- Sycz, K.;
- Świniarska, M.;
- Huzarski, T.;
- Cybulski, C.;
- Debniak, T.;
- Oszurek, O.;
- Lubinski, J.;
- Narod, S.A.;
- Gronwald, J.
Publication type:
Article
The human knockout phenotype of PADI6 is female sterility caused by cleavage failure of their fertilized eggs.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 344, doi. 10.1111/cge.12866
By:
- Maddirevula, S.;
- Coskun, S.;
- Awartani, K.;
- Alsaif, H.;
- Abdulwahab, F.M.;
- Alkuraya, F.S.
Publication type:
Article
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 328, doi. 10.1111/cge.12867
By:
- Faridi, R.;
- Rehman, A.U.;
- Morell, R.J.;
- Friedman, P.L.;
- Demain, L.;
- Zahra, S.;
- Khan, A.A.;
- Tohlob, D.;
- Assir, M.Z.;
- Beaman, G.;
- Khan, S.N.;
- Newman, W.G.;
- Riazuddin, S.;
- Friedman, T.B.
Publication type:
Article
Epispadias and the associated embryopathies: genetic and developmental basis.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 247, doi. 10.1111/cge.12871
By:
- Suzuki, K.;
- Matsumaru, D.;
- Matsushita, S.;
- Murashima, A.;
- Ludwig, M.;
- Reutter, H.;
- Yamada, G.
Publication type:
Article
The biology of germ cell tumors in disorders of sex development.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 292, doi. 10.1111/cge.12882
By:
- Hersmus, Remko;
- Bever, Yolande;
- Wolffenbuttel, Katja P.;
- Biermann, Katharina;
- Cools, Martine;
- Looijenga, Leendert H.J.
Publication type:
Article
Genetics of Mayer-Rokitansky-Küster-Hauser ( MRKH) syndrome.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 233, doi. 10.1111/cge.12883
By:
- Fontana, L.;
- Gentilin, B.;
- Fedele, L.;
- Gervasini, C.;
- Miozzo, M.
Publication type:
Article
Genetics of mitochondrial dysfunction and infertility.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 199, doi. 10.1111/cge.12896
By:
- Demain, L.A.M.;
- Conway, G.S.;
- Newman, W.G.
Publication type:
Article
Recent insights on the genetics and epigenetics of endometriosis.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 254, doi. 10.1111/cge.12897
By:
- Borghese, B.;
- Zondervan, K.T.;
- Abrao, M.S.;
- Chapron, C.;
- Vaiman, D.
Publication type:
Article
Single gene defects leading to sperm quantitative anomalies.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 208, doi. 10.1111/cge.12900
By:
- Mitchell, M.J.;
- Metzler‐Guillemain, C.;
- Toure, A.;
- Coutton, C.;
- Arnoult, C.;
- Ray, P.F.
Publication type:
Article
Genetic abnormalities leading to qualitative defects of sperm morphology or function.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 217, doi. 10.1111/cge.12905
By:
- Ray, P.F.;
- Toure, A.;
- Metzler‐Guillemain, C.;
- Mitchell, M.J.;
- Arnoult, C.;
- Coutton, C.
Publication type:
Article
Maternal genetic polymorphisms and unexplained recurrent miscarriage: a systematic review and meta-analysis.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 265, doi. 10.1111/cge.12910
By:
- Shi, X.;
- Xie, X.;
- Jia, Y.;
- Li, S.
Publication type:
Article
Non-coding variation in disorders of sex development.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 163, doi. 10.1111/cge.12911
By:
- Baetens, D.;
- Mendonça, B.B.;
- Verdin, H.;
- Cools, M.;
- De Baere, E.
Publication type:
Article
The current state of diagnostic genetics for conditions affecting sex development.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 157, doi. 10.1111/cge.12912
By:
- Alhomaidah, D.;
- McGowan, R.;
- Ahmed, S.F.
Publication type:
Article
Genetics and genomics of ovarian sex cord-stromal tumors.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 285, doi. 10.1111/cge.12917
By:
- Fuller, P.J.;
- Leung, D.;
- Chu, S.
Publication type:
Article
Genetics of primary ovarian insufficiency.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 183, doi. 10.1111/cge.12921
By:
- Rossetti, R.;
- Ferrari, I.;
- Bonomi, M.;
- Persani, L.
Publication type:
Article
Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 143, doi. 10.1111/cge.12932
By:
- Bashamboo, A.;
- Eozenou, C.;
- Rojo, S.;
- McElreavey, K.
Publication type:
Article
Issue Information - Editorial Board.
Published in:
Clinical Genetics, 2017, v. 91, n. 2, p. 141, doi. 10.1111/cge.12935
Publication type:
Article