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

Results: 22

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

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

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

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

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

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

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

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

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

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

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