Works matching DE "Y chromosome abnormalities"

Results: 86

Y chromosome homogeneity in the Korean population.

Published in:

International Journal of Legal Medicine, 2010, v. 124, n. 6, p. 653, doi. 10.1007/s00414-010-0501-1

By:

Soon Hee Kim;
Myun Soo Han;
Wook Kim;
Won Kim

Publication type:

Article

Perspectives in Pediatric Pathology, Chapter 16. Klinefelter Syndrome and Other Anomalies in X and Y Chromosomes. Clinical and Pathological Entities.

Published in:

Pediatric & Developmental Pathology, 2016, v. 19, n. 4, p. 259, doi. 10.2350/14-06-1512-PB.1

By:

Nistal, Manuel;
Paniagua, Ricardo;
González-Peramato, Pilar;
Reyes-Múgica, Miguel

Publication type:

Article

Y chromosome haplogroup D2a1 is significantly associated with high levels of luteinizing hormone in Japanese men.

Published in:

Andrology, 2015, v. 3, n. 3, p. 520, doi. 10.1111/andr.12026

By:

Sato, Y.;
Shinka, T.;
Nozawa, S.;
Yoshiike, M.;
Koh, E.;
Kanaya, J.;
Namiki, M.;
Matsumiya, K.;
Tsujimura, A.;
Komatsu, K.;
Itoh, N.;
Eguchi, J.;
Yamauchi, A.;
Iwamoto, T.;
Nakahori, Y.

Publication type:

Article

Clinical genetic testing for male factor infertility: current applications and future directions.

Published in:

Andrology, 2014, v. 2, n. 3, p. 339, doi. 10.1111/j.2047-2927.2014.00200.x

By:

Hotaling, J.;
Carrell, D. T.

Publication type:

Article

Y-chromosome R-M343 African lineages and sickle cell disease reveal structured assimilation in Lebanon.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 29, doi. 10.1038/jhg.2010.131

By:

Haber, Marc;
Platt, Daniel E;
Khoury, Simon;
Badro, Danielle A;
Abboud, Miguel;
Tyler-Smith, Chris;
Zalloua, Pierre A

Publication type:

Article

Transmission of Y chromosomal microdeletions from father to son through intracytoplasmic sperm injection.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 9, p. 465, doi. 10.1007/s100380200066

By:

Komori, S.;
Kato, H.;
Kobayashi, S.;
Koyama, K.;
Isojima, S.

Publication type:

Article

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.

Published in:

Journal of Human Genetics, 2000, v. 45, n. 2, p. 112, doi. 10.1007/s100380050026

By:

Okuhara, Koji;
Tajima, Toshihiro;
Nakae, Jun;
Fujieda, Kenji

Publication type:

Article

Human Y chromosome haplogroup R-V88: a paternal genetic record of early mid Holocene trans-Saharan connections and the spread of Chadic languages.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 7, p. 800, doi. 10.1038/ejhg.2009.231

By:

Cruciani, Fulvio;
Trombetta, Beniamino;
Sellitto, Daniele;
Massaia, Andrea;
Destro-Bisol, Giovanni;
Watson, Elizabeth;
Beraud Colomb, Eliane;
Dugoujon, Jean-Michel;
Moral, Pedro;
Scozzari, Rosaria

Publication type:

Article

A spatial analysis of genetic structure of human populations in China reveals distinct difference between maternal and paternal lineages.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 705, doi. 10.1038/sj.ejhg.5201998

By:

Xue, Fuzhong;
Wang, Yi;
Xu, Shuhua;
Zhang, Feng;
Wen, Bo;
Wu, Xuesen;
Lu, Ming;
Deka, Ranjan;
Qian, Ji;
Jin, Li

Publication type:

Article

Variantes genéticas asociadas con infertilidad masculina en pacientes mexicanos.

Published in:

Ginecología y Obstetricia de México, 2013, v. 81, n. 5, p. 245

By:

Piña-Aguilar, Raúl Eduardo;
Chima-Galán, María del Carmen;
Yerena-de-Vega, María de la Concepción A.;
Regalado-Hernández, Miguel Ángel;
Sánchez-Guerrero, Cecilia;
García-Ortiz, Liliana;
Santillán-Hernández, Yuritzi;
Moreno-García, Jesús Daniel

Publication type:

Article

An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.

Published in:

Nature Genetics, 1999, v. 23, n. 4, p. 429, doi. 10.1038/70539

By:

Sun, Chao;
Skaletsky, Helen;
Birren, Bruce;
Devon, Keri;
Tang, Zhaolan;
Silber, Sherman;
Oates, Robert;
Page, David C.

Publication type:

Article

Molecular analysis of the Y chromosome in XX sex-reversed patients.

Published in:

Russian Journal of Genetics, 2008, v. 44, n. 2, p. 197, doi. 10.1134/S1022795408020129

By:

Chernykh, V. B.;
Chukhrova, A. L.;
Wasserman, N. N.;
Il'ina, E. V.;
Karmanov, M. E.;
Fedotov, V. P.;
Kurilo, L. F.;
Polyakov, A. V.

Publication type:

Article

Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism.

Published in:

Clinical Endocrinology, 1999, v. 50, n. 1, p. 19, doi. 10.1046/j.1365-2265.1999.00607.x

By:

Mendes, Judite R. T.;
Strufaldi, Maria Wany L.;
Delcelo, Rosana;
Moisés, Regina C. M. S.;
Gilberto Vieira, José;
Kasamatsu, Teresa S.;
Francis Galera, Marcial;
Andrade, Joyce A. D.;
Verreschi, Ieda T. N.;
T.N. Verreschi, Ieda

Publication type:

Article

Y-chromosome mosaicism in girls with Turner's syndrome.

Published in:

Clinical Endocrinology, 1999, v. 50, n. 1, p. 17, doi. 10.1046/j.1365-2265.1999.00645.x

By:

Chu, Carol;
Chu, Dr Carol

Publication type:

Article

The Prevalence of Y Chromosome Microdeletions in Iranian Infertile Men with Azoospermia and Severe Oligospermia.

Published in:

Cell Journal (Yakhteh), 2017, v. 19, n. 1, p. 27

By:

Asadi, Fahimeh;
Gilani, Mohammad Ali Sadighi;
Ghaheri, Azadeh;
Saffari, Javad Roodgar;
Zamanian, Mohammadreza

Publication type:

Article

Y chromosome microdeletions and germinal mosaicism in infertile males.

Published in:

Molecular Human Reproduction, 2000, v. 6, n. 8, p. 688, doi. 10.1093/molehr/6.8.688

By:

Le Bourhis, Corine;
Siffroi, Jean Pierre;
McElreavey, Ken;
Dadoune, Jean Pierre

Publication type:

Article

Validation of a simple Yq deletion screening programme in an ICSI candidate population.

Published in:

Molecular Human Reproduction, 2000, v. 6, n. 4, p. 291, doi. 10.1093/molehr/6.4.291

By:

Van Landuyt, Lisbet

Publication type:

Article

The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance.

Published in:

Biology of Sex Differences, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2042-6410-4-15

By:

Xuqi Chen;
Williams-Burris, Shayna M.;
McClusky, Rebecca;
Ngun, Tuck C.;
Ghahramani, Negar;
Barseghyan, Hayk;
Reue, Karen;
Vilain, Eric;
Arnold, Arthur P.

Publication type:

Article

Ongoing Y-chromosome instability defines sub-clonal variants in radiation-induced leukaemias in the mouse.

Published in:

International Journal of Radiation Biology, 1997, v. 72, n. 1, p. 1, doi. 10.1080/095530097143482

By:

Plumb, M.;
Harper, K.;
Macdonald, D.;
Fennelly, J.;
Lorimore, S.;
Wright, E.

Publication type:

Article

A Novel SRY Mutation Leads to Asymmetric SOX9 Activation and Is Responsible for Mixed 46,XY Gonadal Dysgenesis.

Published in:

Hormone Research in Paediatrics, 2012, v. 78, n. 3, p. 188, doi. 10.1159/000336925

By:

Klee, Philippe;
Béna, Frédérique;
Birraux, Jacques;
Dahoun, Sophie;
Dirlewanger, Mirjam;
Girardin, Céline;
Plotton, Ingrid;
Rougemont, Anne-Laure;
Morel, Yves;
Schwitzgebel, Valérie M.

Publication type:

Article

Prevalence of Y Chromosome Microdeletions in Idiopathic Azoospermia Cases in Central Indian Men.

Published in:

Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 9, p. 1, doi. 10.7860/JCDR/2015/15249.6515

By:

AMBULKAR, PRAFULLA;
CHUADHARY, AJAY;
WAGHMARE, JWALANT;
TARNEKAR, AADITYA;
PAL, ASOKE

Publication type:

Article

A case of personal identification due to detection of rare DNA types from seminal stain.

Published in:

2009

By:

Tsutsumi, Hirofumi;
Komuro, Toshinobu;
Mukoyama, Rei;
Izawa, Hikaru;
Jian Tie;
Uchigasaki, Seisaku

Publication type:

Case Study

Cold-induced alteration in the global structure of the male sex chromosome of In(1)B<sup>M2</sup>(reinverted) of Drosophila melanogaster is associated with increased acetylation of histone 4 at lysine 16.

Published in:

Journal of Genetics, 2008, v. 87, n. 3, p. 235, doi. 10.1007/s12041-008-0037-z

By:

KULKARNI-SHUKLA, S.;
BARGE, A. P.;
VARTAK, R. S.;
KAR, ANITA

Publication type:

Article

Evolution of the Sex Chromosomes in Beetles. I. The Loss of the Y Chromosome.

Published in:

Cytogenetic & Genome Research, 2017, v. 152, n. 2, p. 97, doi. 10.1159/000478075

By:

Dutrillaux, Anne-Marie;
Dutrillaux, Bernard

Publication type:

Article

Y chromosome microdeletions and varicocele as aetiological factors of male infertility: A cross‐sectional study.

Published in:

Andrologia, 2018, v. 50, n. 3, p. 1, doi. 10.1111/and.12938

By:

de Sousa Filho, E. P.;
Christofolini, D. M.;
Barbosa, C. P.;
Bianco, B.;
Glina, S.

Publication type:

Article

Outcomes of intracytoplasmic sperm injection in oligozoospermic men with Y chromosome AZFb or AZFc microdeletions.

Published in:

Andrologia, 2017, v. 49, n. 1, p. n/a, doi. 10.1111/and.12602

By:

Liu, X.‐Y.;
Wang, R.‐X.;
Fu, Y.;
Luo, L.‐L.;
Guo, W.;
Liu, R.‐Z.

Publication type:

Article

Screening for Y Chromosome Microdeletion in a Nonobstructive Azoospermic Male Patient with Allogeneic Bone Marrow Transplantation from His Sister.

Published in:

2010

By:

Gurkan, Hakan;
Kucukdurmaz, Faruk;
Akman, Tolga;
Aydin, Filiz;
Kadioglu, Ates

Publication type:

Case Study

Phenotypic variability in isodicentric Y patients: study of nine cases.

Published in:

Clinical Genetics, 2006, v. 70, n. 2, p. 145, doi. 10.1111/j.1399-0004.2006.00654.x

By:

DesGroseilliers, M;
Beaulieu Bergeron, M;
Brochu, P;
Lemyre, E;
Lemieux, N

Publication type:

Article

Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads.

Published in:

1999

By:

Gibbons, B;
Tan, SY;
Yu, CC-W;
Cheah, E;
Tan, HL;
Tan, S Y;
Yu, C C;
Tan, H L

Publication type:

journal article

Cytogenetic, Y chromosome microdeletion, sperm chromatin and oxidative stress analysis in male partners of couples experiencing recurrent spontaneous abortions.

Published in:

2011

By:

Venkatesh, S.;
Thilagavathi, J.;
Kumar, K.;
Deka, D.;
Talwar, P.;
Dada, Rima

Publication type:

journal article

Chromosome biology: Getting your Ys crossed.

Published in:

Nature Reviews Genetics, 2009, v. 10, n. 10, p. 661, doi. 10.1038/nrg2672

By:

Muers, Mary

Publication type:

Article

VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality.

Published in:

2015

By:

Bhagat, Manish

Publication type:

Case Study

A boy with 46,X,+mar presenting gynecomastia and short stature.

Published in:

2017

By:

Ki Eun Kim;
Ye Jin Kim;
Mo Kyoung Jung;
Hyun-Wook Chae;
Ah Reum Kwon;
Woo Jung Lee;
Duk-Hee Kim;
Ho-Seong Kim

Publication type:

Case Study

Structural variation of the human genome: mechanisms, assays, and role in male infertility.

Published in:

Systems Biology in Reproductive Medicine, 2011, v. 57, n. 1/2, p. 3, doi. 10.3109/19396368.2010.527427

By:

Carvalho, Claudia M.B.;
Zhang, Feng;
Lupski, James R.

Publication type:

Article

Discrepancy in the results of Y chromosome microdeletions in an Iranian population.

Published in:

Journal of Human Reproductive Sciences, 2011, v. 4, n. 3, p. 157

By:

Malekasgar, Ali Mohammad;
Mombaini, Hayat

Publication type:

Article

Discrepancy in the results of Y chromosome microdeletions in an Iranian population.

Published in:

Journal of Human Reproductive Sciences, 2011, v. 4, n. 3, p. 157, doi. 10.4103/0974-1208.92295

By:

Saliminejad, Kioomars;
Khorshid, Hamid Reza Khorram

Publication type:

Article

Structure and decay of a proto-Y region in Tilapia, Oreochromis niloticus.

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-975

By:

Gammerdinger, William J.;
Conte, Matthew A.;
Acquah, Enoch A.;
Roberts, Reade B.;
Kocher, Thomas D.

Publication type:

Article

45,X/46,X,r(Y)/46,X,dic r(Y) Karyotype in an Azoospermic Male: A Case Report.

Published in:

Cytogenetic & Genome Research, 2014, v. 142, n. 2, p. 140, doi. 10.1159/000356467

By:

Dong, Y.;
Yu, X.W.;
Wang, R.X.;
Li, L.L.;
Jiang, Y.T.;
Liu, R.Z.

Publication type:

Article

Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome Aberrations.

Published in:

Cytogenetic & Genome Research, 2012, v. 136, n. 4, p. 270, doi. 10.1159/000338413

By:

Kim, J.-W.;
Park, S.-Y.;
Ryu, H.-M.;
Lee, D.-E.;
Lee, B.-Y.;
Kim, S.-Y.;
Park, Y.-S.;
Lee, H.-S.;
Seo, J.-T.

Publication type:

Article

A Prevalent Y;15 Translocation in the Ethiopian Beta Israel Community in Israel.

Published in:

Cytogenetic & Genome Research, 2012, v. 136, n. 3, p. 171, doi. 10.1159/000336201

By:

Chen-Shtoyerman, R.;
Josefsberg Ben-Yehoshua, S.;
Nissani, R.;
Rosensaft, J.;
Appelman, Z.

Publication type:

Article

Male Fertility, Chromosome Abnormalities, and Nuclear Organization.

Published in:

Cytogenetic & Genome Research, 2011, v. 133, n. 2-4, p. 269, doi. 10.1159/000322060

By:

Ioannou, D.;
Griffin, D. K.

Publication type:

Article

Miyelodisplastik sendrom olgularında sitogenetik analiz sonuçlarının hasta prognozuna etkisi.

Published in:

Gulhane Medical Journal, 2011, v. 53, n. 2, p. 104

By:

Güran, Şefik;
Beyan, Cengiz;
Tunca, Yusuf;
Kozan, Salih;
Torun, Deniz;
Ifran, Ahmet;
Kaptan, Kürşat;
Ural, Ali Uğur;
Nevruz, Oral;
Avcu, Ferit;
Çetin, Türker;
Gü, Davut;
Bahçe, Muhterem

Publication type:

Article

Bipolar affective disorder in a male with a deletion of Y chromosome– a case report.

Published in:

Bipolar Disorders, 2005, v. 7, n. 3, p. 298, doi. 10.1111/j.1399-5618.2005.00198.x

By:

Olajossy, Marcin;
Olajossy‐Hilkesberger, Luiza;
Tkaczuk‐Włach, Joanna

Publication type:

Article

Frequency of fragile-x in x-linked mental retardation.

Published in:

Egyptian Journal of Medical Human Genetics, 2008, v. 9, n. 2, p. 237

By:

El Sobky, Ezzat S.;
El-Ella, Soheir Abou;
Tawfik, Maha A.;
Mohamed, Wafaa M.

Publication type:

Article

The Eastern side of the Westernmost Europeans: Insights from subclades within Y‐chromosome haplogroup J‐M304.

Published in:

American Journal of Human Biology, 2018, v. 30, n. 2, p. 1, doi. 10.1002/ajhb.23082

By:

Manco, Licínio;
Albuquerque, Joana;
Sousa, Maria Francisca;
Martiniano, Rui;
de Oliveira, Ricardo Costa;
Marques, Sofia;
Gomes, Verónica;
Amorim, António;
Alvarez, Luís;
Prata, Maria João

Publication type:

Article

Genetic structure of the Kuwaiti population revealed by paternal lineages.

Published in:

American Journal of Human Biology, 2016, v. 28, n. 2, p. 203, doi. 10.1002/ajhb.22773

By:

Triki‐Fendri, Soumaya;
Sánchez‐Diz, Paula;
Rey‐González, Danel;
Alfadhli, Suad;
Ayadi, Imen;
Ben Marzoug, Riadh;
Carracedo, Ángel;
Rebai, Ahmed

Publication type:

Article

Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study.

Published in:

Human Genetics, 2007, v. 121, n. 6, p. 691, doi. 10.1007/s00439-007-0365-8

By:

Higgins, Craig;
Swerdlow, Anthony;
Schoemaker, Minouk;
Wright, Alan;
Jacobs, Patricia

Publication type:

Article

Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 591, doi. 10.1007/s00439-005-0076-y

By:

Derenko, Miroslava;
Malyarchuk, Boris;
Denisova, Galina A.;
Wozniak, Marcin;
Dambueva, Irina;
Dorzhu, Choduraa;
Luzina, Faina;
Miścicka-Śliwka, Danuta;
Zakharov, Ilia

Publication type:

Article

Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases.

Published in:

Human Genetics, 2002, v. 111, n. 3, p. 278, doi. 10.1007/s00439-002-0772-9

By:

Queipo, Gloria;
Zenteno, Juan;
Peńa, Rocço;
Nieto, Karen;
Radillo, Alejandro;
Dorantes, Luis;
Eraña, Luis;
Lieberman, Esther;
Söderlund, Daniela;
Jiménez, Ana;
Ramón, Guillermo;
Kofman-Alfaro, Susana

Publication type:

Article

Colombia's racial crucible: Y chromosome evidence from six admixed communities in the Department of Bolivar.

Published in:

Annals of Human Biology, 2014, v. 41, n. 5, p. 453, doi. 10.3109/03014460.2013.852244

By:

Noguera, María Claudia;
Schwegler, Armin;
Gomes, Verónica;
Briceño, Ignacio;
Alvarez, Luis;
Uricoechea, Daniel;
Amorim, António;
Benavides, Escilda;
Silvera, Carlos;
Charris, Marlon;
Bernal, Jaime E.;
Gusmão, Leonor

Publication type:

Article