Works about X chromosome abnormalities

Results: 558

X-linked insertion/deletion polymorphisms: forensic applications of a 33-markers panel.

Published in:

International Journal of Legal Medicine, 2010, v. 124, n. 6, p. 589, doi. 10.1007/s00414-010-0441-9

By:

Freitas, Natalle S. C.;
Resque, Rafael L.;
Ribeiro-Rodrigues, Elzemar M.;
Guerreiro, João F.;
Santos, Ney P. C.;
Ribeiro-dos-Santos, Ândrea;
Santos, Sidney

Publication type:

Article

Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 5076, doi. 10.3390/jcm10215076

By:

Kasprzyk, Jakub;
Włodarczyk, Marcin;
Sobolewska-Włodarczyk, Aleksandra;
Wieczorek-Szukała, Katarzyna;
Stawerska, Renata;
Hilczer, Maciej;
Lewiński, Andrzej

Publication type:

Article

Premature menopause - Meeting the needs.

Published in:

2014

By:

Shah, D;
Nagarajan, N

Publication type:

journal article

Prevalence of Color Vision Deficiency in Qazvin.

Published in:

Zahedan Journal of Research in Medical Sciences, 2014, v. 16, n. 1, p. 91

By:

Khalaj, Mohammad;
Barikani, Ameneh;
Mohammadi, Mozhgan

Publication type:

Article

Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.

Published in:

Clinical Endocrinology, 1998, v. 48, n. 6, p. 713, doi. 10.1046/j.1365-2265.1998.00406.x

By:

Maya-Núñez, Guadalupe;
Cuevas-Covarrubias, Sergio;
Carlos Zenteno, Juan;
Ulloa-Aguirre, Alfredo;
Kofman-Alfaro, Susana;
Pablo Méndez, Juan

Publication type:

Article

A case of pustular psoriasis possibly precipitated by periodic oestrogen/gestagen therapy for Turner syndrome.

Published in:

Clinical & Experimental Dermatology, 2019, v. 44, n. 7, p. e240, doi. 10.1111/ced.13979

By:

Shiratori, T.;
Takeichi, T.;
Kono, M.;
Nishida, M.;
Imanishi, A.;
Maekawa, N.;
Kawamura, N.;
Fukai, K.

Publication type:

Article

A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl.

Published in:

Clinical & Experimental Dermatology, 2018, v. 43, n. 1, p. 60, doi. 10.1111/ced.13241

By:

Lei, K.;
Zhang, Y.;
Dong, Z.;
Sun, Y.;
Yi, Z.;
Chen, Z.

Publication type:

Article

A novel 7-bp deletion mutation in a Taiwanese family with X-linked hypohidrotic ectodermal dysplasia.

Published in:

Clinical & Experimental Dermatology, 2004, v. 29, n. 5, p. 536, doi. 10.1111/j.1365-2230.2004.01547.x

By:

Lin, T.-K.;
Huang, C.-Y.;
Lin, M.-H.;
Chao, S.-C.

Publication type:

Article

Brief Report: Visual Processing of Faces in Individuals with Fragile X Syndrome: An Eye Tracking Study.

Published in:

Journal of Autism & Developmental Disorders, 2009, v. 39, n. 6, p. 946, doi. 10.1007/s10803-009-0744-1

By:

Farzin, Faraz;
Rivera, Susan M.;
Hessl, David

Publication type:

Article

Social Escape Behaviors in Children with Fragile X Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2006, v. 36, n. 7, p. 935, doi. 10.1007/s10803-006-0132-z

By:

Hall, Scott;
DeBernardis, Marie;
Reiss, Allan

Publication type:

Article

Dental Care for an adolescent with chromosome pentasomy: rare case report with a two year follow-up.

Published in:

2015

By:

ALVES, Nayara Silva;
ASSAF, Andréa Videira;
MARTINS, Ângela Maria;
Rodrigues CAJAZEIRA, Marlus Roberto;
ANTUNES, Leonardo Santos;
SILVEIRA, Flávia Maia

Publication type:

Case Study

Stapedectomy Gusher: A Clinical Experience.

Published in:

Journal of International Advanced Otology, 2010, v. 6, n. 2, p. 149

By:

Wahba, Hassan;
Youssef, Tamer

Publication type:

Article

Use of State Administrative Data Sources to Study Adolescents and Young Adults with Rare Conditions.

Published in:

JGIM: Journal of General Internal Medicine, 2014, v. 29, p. 732, doi. 10.1007/s11606-014-2925-7

By:

Royer, J.;
Hardin, J.;
McDermott, S.;
Ouyang, L.;
Mann, J.;
Ozturk, O.;
Bolen, J.

Publication type:

Article

Síndrome de Coffin-Lowry.

Published in:: Universitas Médica, 2010, v. 51, n. 4, p. 427, doi. 10.11144/javeriana.umed51-4.sico
Publication type:: Article

Estudio de portadoras en una familia colombiana con retinoesquisis juvenil ligada a X. Fase I: genotipificación.

Published in:

Universitas Médica, 2007, v. 48, n. 2, p. 97

By:

Tamayo, Marta Lucía;
Morales, Lisbeth;
Gálvez, Nancy;
Rodríguez, Francisco;
Rodríguez, Álvaro

Publication type:

Article

Keratosis Follicularis Spinulosa Decalvans Associated with Leukonychia.

Published in:

2014

By:

Azakli, H. N.;
Agirgol, S.;
Takmaz, S.;
Dervis, E.

Publication type:

Case Study

Epilepsy in autism spectrum disorders.

Published in:

Epilepsia (Series 4), 2010, v. 51, p. 78, doi. 10.1111/j.1528-1167.2010.02864.x

By:

Stafstrom, Carl E.;
Hagerman, Paul J.;
Pessah, Isaac N.

Publication type:

Article

Status epilepticus in fragile X syndrome.

Published in:

Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2470, doi. 10.1111/j.1528-1167.2010.02761.x

By:

Gauthey, Magali;
Poloni, Claudia B.;
Ramelli, Gian-Paolo;
Roulet-Perez, Eliane;
Korff, Christian M.

Publication type:

Article

Abnormal X : autosome ratio, but normal X chromosome inactivation in human triploid cultures.

Published in:

BMC Genetics, 2006, v. 7, p. 41, doi. 10.1186/1471-2156-7-41

By:

Gartler, Stanley M;
Varadarajan, Kartik R;
Luo, Ping;
Norwood, Thomas H;
Canfield, Theresa K;
Hansen, R Scott

Publication type:

Article

Fragile X Syndrome and Autism: Common Developmental Pathways?

Published in:

Current Pediatric Reviews, 2007, v. 3, n. 1, p. 61, doi. 10.2174/157339607779941660

By:

Cornish, Kim;
Turk, Jeremy;
Levitas, Andrew

Publication type:

Article

Oculo-facio-cardio-dental Syndrome: Report of a Rare Case.

Published in:

Angle Orthodontist, 2006, v. 76, n. 1, p. 184

By:

Türkkahraman, Hakan;
Sarıoğlu, Mehmet

Publication type:

Article

Orthodontic and Orthopedic Treatment of a Patient with Incontinentia Pigmenti.

Published in:

Angle Orthodontist, 2003, v. 73, n. 6, p. 763

By:

Doruk, Cenk;
Bicakci, Ali Altug;
Babacan, Hasan

Publication type:

Article

Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome.

Published in:

Chromosome Research, 2020, v. 28, n. 2, p. 155, doi. 10.1007/s10577-019-09621-1

By:

Chadwick, Brian P.

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

Gonadoblastoma in Patients with Ullrich-Turner Syndrome.

Published in:

Pediatric & Developmental Pathology, 2015, v. 18, n. 2, p. 117, doi. 10.2350/14-08-1539-OA.1

By:

ZELAYA, GABRIELA;
LÓPEZ MARTI, JESSICA M.;
MARINO, ROXANA;
GARCIA DE DÁVILA, MARIA T.;
GALLEGO, MARTA S.

Publication type:

Article

Anterior Segment Developmental Anomalies in a 33-Week-Old Fetus with MIDAS Syndrome.

Published in:

2014

By:

HERWIG, MARTINA C.;
LOEFFLER, KARIN U.;
GEMBRUCH, ULRICH;
KUCHELMEISTER, KLAUS;
MÜLLER, ANNETTE M.

Publication type:

Case Study

Genetic changes in bilateral breast cancer by comparative genomic hybridisation.

Published in:

Clinical & Experimental Medicine, 2007, v. 7, n. 1, p. 1, doi. 10.1007/s10238-007-0123-1

By:

Park, S.-C.;
Hwang, U.-K.;
Ahn, S.-H.;
Gong, G.-Y.;
Yoon, H.-S.

Publication type:

Article

Perioperatives Management bei Patienten mit Hämophilie.

Published in:

Der Anaesthesist, 2014, v. 63, n. 1, p. 6, doi. 10.1007/s00101-013-2256-9

By:

Lison, S.;
Spannagl, M.

Publication type:

Article

Genomics: X-linked mysteries.

Published in:: Nature, 2009, v. 458, n. 7242, p. 1081, doi. 10.1038/4581081c
Publication type:: Article

Neuroscience: Fragile dopamine.

Published in:

Nature, 2008, v. 455, n. 7213, p. 607, doi. 10.1038/455607a

By:

Weinshenker, David;
Warren, Stephen T.

Publication type:

Article

INCONTINENTIA PIGMENTI IN A NEWBORN AND MOTHER.

Published in:

2013

By:

Bonifazi, E.

Publication type:

Case Study

Abstracts of papers presented at the seventeenth Genetics Society's Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 9 and 10 November 2006.

Published in:

Genetics Research, 2007, v. 89, p. 181, doi. 10.1017/S0016672307008804

By:

COPP, ANDREW J.;
GREENE, NICHOLAS D.??E.;
FISHER, ELIZABETH M.??C.

Publication type:

Article

Turner syndrome caused by rare complex structural abnormalities involving chromosome X.

Published in:

Experimental & Therapeutic Medicine, 2017, v. 14, n. 3, p. 2265, doi. 10.3892/etm.2017.4756

By:

NIU LI;
LI ZHAO;
JUAN LI;
YU DING;
YONGNIAN SHEN;
XIAODONG HUANG;
XIUMIN WANG;
JIAN WANG

Publication type:

Article

Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX).

Published in:

Clinical & Experimental Immunology, 2004, v. 137, n. 2, p. 373, doi. 10.1111/j.1365-2249.2004.02537.x

By:

Bakke, A. C.;
Purtzer, M. Z.;
Wildin, R. S.

Publication type:

Article

Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 8, p. 589, doi. 10.1038/jhg.2011.65

By:

Brown, Charlotte A;
Scharner, Juergen;
Felice, Kevin;
Meriggioli, Matthew N;
Tarnopolsky, Mark;
Bower, Matthew;
Zammit, Peter S;
Mendell, Jerry R;
Ellis, Juliet A

Publication type:

Article

Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 390, doi. 10.1038/jhg.2011.25

By:

Renault, Nisa KE;
Renault, Marc P;
Copeland, Emily;
Howell, Robin E;
Greer, Wenda L

Publication type:

Article

Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 8, doi. 10.1038/jhg.2010.121

By:

Liao, Hsiao-Mei;
Niu, Dau-Ming;
Chen, Yan-Jang;
Fang, Jye-Siung;
Chen, Shih-Jen;
Chen, Chia-Hsiang

Publication type:

Article

An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 52, doi. 10.1038/jhg.2010.143

By:

Fichou, Yann;
Nectoux, Juliette;
Bahi-Buisson, Nadia;
Chelly, Jamel;
Bienvenu, Thierry

Publication type:

Article

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 87, doi. 10.1038/jhg.2010.140

By:

Martorell, Loreto;
Nascimento, María T;
Colome, Roser;
Genovés, Jordi;
Naudó, Montserrat;
Nascimento, Andrés

Publication type:

Article

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 6, p. 379, doi. 10.1038/jhg.2010.49

By:

Takeshima, Yasuhiro;
Yagi, Mariko;
Okizuka, Yo;
Awano, Hiroyuki;
Zhang, Zhujun;
Yamauchi, Yumiko;
Nishio, Hisahide;
Matsuo, Masafumi

Publication type:

Article

Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 4, p. 244, doi. 10.1038/jhg.2010.14

By:

Honda, Shozo;
Orii, Koji O.;
Kobayashi, Junya;
Hayashi, Shin;
Imamura, Atsushi;
Imoto, Issei;
Nakagawa, Eiji;
Goto, Yu-ichi;
Inazawa, Johji

Publication type:

Article

A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 12, p. 1133, doi. 10.1007/s10038-006-0071-8

By:

Changzheng Huang;
Qinbo Yang;
Tie Ke;
Haisheng Wang;
Xu Wang;
Jiqun Shen;
Xin Tu;
Jin Tian;
Jing Liu;
Qing Wang;
Mugen Liu

Publication type:

Article

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 11, p. 1030, doi. 10.1007/s10038-006-0049-6

By:

Cau, Milena;
Addis, Maria;
Congiu, Rita;
Meloni, Cristiana;
Cao, Antonio;
Santaniello, Simona;
Loi, Mario;
Emma, Francesco;
Zuffardi, Orsetta;
Ciccone, Roberto;
Sole, Gabriella;
Melis, Maria

Publication type:

Article

Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.

Published in:

Journal of Human Genetics, 2005, v. 50, n. 2, p. 99, doi. 10.1007/s10038-004-0226-4

By:

Guimar&atild;es, Carla P.;
Sá-Miranda, Clara;
Azevedo, Jorge E.

Publication type:

Article

Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 6, p. 334, doi. 10.1007/s10038-004-0153-4

By:

Okamoto, Nobuhiko;
Del Maestro, Rolando;
Valero, Rebeca;
Monros, Eugenia;
Poo, Pilar;
Kanemura, Yonehiro;
Yamasaki, Mami

Publication type:

Article

A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome.

Published in:

Journal of Human Genetics, 2000, v. 45, n. 4, p. 237, doi. 10.1007/s100380070033

By:

Nagata, K.;
Yamamoto, T.;
Chikumi, H.;
Ikeda, T.;
Yamamoto, H.;
Hashimoto, K.;
Yoneda, K.;
Nanba, E.;
Ninomiya, H.;
Ishitobi, K.

Publication type:

Article

X-chromosome inactivation in the human trophoblast of early pregnancy.

Published in:

Journal of Human Genetics, 2000, v. 45, n. 3, p. 119, doi. 10.1007/s100380050197

By:

Uehara, S.;
Tamura, M.;
Nata, M.;
Ji, G.;
Yaegashi, N.;
Okamura, K.;
Yajima, A.

Publication type:

Article

Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence.

Published in:

Journal of Human Genetics, 2000, v. 45, n. 3, p. 167

By:

Sakamoto, M.;
Ono, J.;
Okada, S.;
Nakamura, Y.;
Kurahashi, H.

Publication type:

Article

Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 3, p. 206, doi. 10.1007/s100380050144

By:

Ogawa, A.;
Yamamoto, Shigenori;
Takayanagi, Masaki;
Kogo, Toshiaki;
Kanazawa, Masaki;
Kohno, Yoichi

Publication type:

Article

Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

Published in:

2016

By:

Manassero-Morales, Gioconda;
Alvarez-Manassero, Denisse;
Merino-Luna, Alfredo

Publication type:

Case Study