Works matching DE "X chromosome abnormalities"

Results: 558

The Inactive X Chromosome: A Genetic Driver of Female‐Biased Rheumatic Autoimmune Disorders?

Published in:

European Journal of Immunology, 2025, v. 55, n. 5, p. 1, doi. 10.1002/eji.202451331

By:

Ferrayé, Léa;
Nieucel, Mélissa;
Savignac, Magali;
Chaumeil, Julie;
Guéry, Jean‐Charles

Publication type:

Article

Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 5, p. 1247, doi. 10.1007/s10815-021-02127-y

By:

Liao, Jingnan;
Luo, Keli;
Cheng, Dehua;
Xie, Pingyuan;
Tan, Yueqiu;
Hu, Liang;
Lu, Guangxiu;
Gong, Fei;
Lin, Ge

Publication type:

Article

Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome.

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 9, p. 1161, doi. 10.1007/s10815-016-0761-x

By:

Chauhan, Pooja;
Jaiswal, Sushil;
Lakhotia, Anjali;
Rai, Amit

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

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A(Communicated by Henrik Dahl).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 457, doi. 10.1002/humu.10287

By:

Zeynep Tümer;
Lisbeth Birk Møller;
Nina Horn

Publication type:

Article

NDP gene mutations in 14 French families with Norrie disease(Communicated by Andreas Gal)Online Citation: Human Mutation, Mutation in Brief #675 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/675.pdf).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 499, doi. 10.1002/humu.9204

By:

Ghislaine Royer;
Sylvain Hanein;
Valérie Raclin;
Nadine Gigarel;
Jean-Michel Rozet;
Arnold Munnich;
Julie Steffann;
Jean-Louis Dufier

Publication type:

Article

Fabry disease: Characterization of α-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele(Communicated by William Sly).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 486, doi. 10.1002/humu.10275

By:

Makiko Yasuda;
Junaid Shabbeer;
Stacy D. Benson;
Irene Maire;
Roger M. Burnett;
Robert J. Desnick

Publication type:

Article

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female (Communicated by Robert Desnick) Online Citation: Human Mutation, Mutation in Brief #643 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258

By:

Adriana Rodríguez-Marí;
M. José Coll;
Amparo Chabás

Publication type:

Article

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous femaleCommunicated by Robert DesnickOnline Citation: Human Mutation, Mutation in Brief #643 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258

By:

Adriana Rodríguez?Marí;
M. José Coll;
Amparo Chabás

Publication type:

Article

X-chromosomal STR-based genetic structure of Sichuan Tibetan minority ethnicity group and its relationships to various groups.

Published in:

International Journal of Legal Medicine, 2018, v. 132, n. 2, p. 409, doi. 10.1007/s00414-017-1672-9

By:

He, Guanglin;
Li, Ye;
Li, Hepei;
Wang, Mengge;
Wu, Jin;
Zou, Xing;
Zhang, Ying

Publication type:

Article

Genetic analysis of 12 X-STR loci in the Serbian population from Vojvodina Province.

Published in:

International Journal of Legal Medicine, 2018, v. 132, n. 2, p. 405, doi. 10.1007/s00414-017-1677-4

By:

Veselinović, Igor;
Vapa, Dušan;
Petrić, Galina;
Djan, Mihajla;
Veličković, Nevena;
Veljović, Tanja

Publication type:

Article

Allele frequencies for 11 X chromosomal short tandem repeats in a population from Turkey.

Published in:

International Journal of Legal Medicine, 2013, v. 127, n. 5, p. 913, doi. 10.1007/s00414-013-0886-8

By:

Poetsch, Micaela;
Wassenaar, Dennis;
Wurmb-Schwark, Nicole

Publication type:

Article

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

X chromosome regulation: diverse patterns in development, tissues and disease.

Published in:

Nature Reviews Genetics, 2014, v. 15, n. 6, p. 367, doi. 10.1038/nrg3687

By:

Deng, Xinxian;
Berletch, Joel B.;
Nguyen, Di K.;
Disteche, Christine M.

Publication type:

Article

To Look or Not to Look? Typical and Atypical Development of Oculomotor Control.

Published in:

Journal of Cognitive Neuroscience, 2005, v. 17, n. 4, p. 591, doi. 10.1162/0898929053467523

By:

Scerif, Gaia;
Karmiloff-Smith, Annette;
Campos, Ruth;
Elsabbagh, Mayada;
Driver, Jon;
Cornish, Kim

Publication type:

Article

Osthole induces lung cancer cell apoptosis through inhibition of inhibitor of apoptosis family proteins.

Published in:

Oncology Letters, 2016, v. 12, n. 5, p. 3779, doi. 10.3892/ol.2016.5170

By:

XIAO-MAN XU;
MAN-LI ZHANG;
YI ZHANG;
LI ZHAO

Publication type:

Article

Do X-linked diseases affect periodontal health?

Published in:

Periodontology 2000, 2013, v. 61, n. 1, p. 266, doi. 10.1111/j.1600-0757.2012.00441.x

By:

Chien, Hua‐Hong;
Hart, Thomas C.

Publication type:

Article

Fragile X Mental Retardation Protein Regulates Olfactory Sensitivity But Not Odorant Discrimination.

Published in:

Chemical Senses, 2015, v. 40, n. 5, p. 345, doi. 10.1093/chemse/bjv019

By:

Nitenson, Arielle Schilit;
Stackpole, Emily E.;
Truszkowski, Torrey L. S.;
Midroit, Maellie;
Fallon, Justin R.;
Bath, Kevin G.

Publication type:

Article

Detecting selection signatures on the X chromosome of the Chinese Debao pony.

Published in:

Journal of Animal Breeding & Genetics, 2018, v. 135, n. 1, p. 84, doi. 10.1111/jbg.12314

By:

Liu, X.‐X.;
Pan, J.‐F.;
Zhao, Q.‐J.;
He, X.‐H.;
Pu, Y.‐B.;
Han, J.‐L.;
Ma, Y.‐H.;
Jiang, L.

Publication type:

Article

The acquisition of stimulus equivalence in individuals with fragile X syndrome.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 9, p. 643, doi. 10.1111/j.1365-2788.2006.00814.x

By:

Hall, S. S.;
DeBernardis, G. M.;
Reiss, A. L.

Publication type:

Article

The fragile-X syndrome: a growing gene causing familial intellectual disability.

Published in:

Journal of Intellectual Disability Research, 1994, v. 38, n. 1, p. 1, doi. 10.1111/j.1365-2788.1994.tb00342.x

By:

De Vries, L. B. A.;
Halley, D. J. J.;
Oostra, B. A.;
Niermeijer, M. F.

Publication type:

Article

Clinical characteristics of 14 Japanese patients with X-linked juvenileretinoschisis associated with XLRS1 mutation.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 3, p. 171, doi. 10.1076/1381-6810(200009)2131-ZFT171

By:

Shinoda, Kei;
Ishida, Susumu;
Oguchi, Yoshihisa;
Mashima, Yukihiko

Publication type:

Article

Severe juvenile retinoschisis associated with a 33-bps deletionin XLRS1 gene.

Published in:

Ophthalmic Genetics, 1999, v. 20, n. 1, p. 57, doi. 10.1076/opge.20.1.57.2303

By:

Shinoda, Kei;
Mashima, Yukihiko;
Ishida, Susumu;
Oguchi, Yoshihisa

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

Detailed assessment of incontinence in boys with fragile-X-syndrome in a home setting.

Published in:

2016

By:

Niemczyk, Justine;
Gontard, Alexander;
Equit, Monika;
Bauer, Katharina;
Naumann, Teresa;
Wagner, C.;
Curfs, Leopold;
von Gontard, Alexander

Publication type:

journal article

A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.

Published in:

European Journal of Pediatrics, 2015, v. 174, n. 5, p. 693, doi. 10.1007/s00431-014-2452-x

By:

Ołdak, Monika;
Ruszkowska, Ewelina;
Pollak, Agnieszka;
Sobczyk-Kopcioł, Agnieszka;
Kowalewski, Cezary;
Piwońska, Aleksandra;
Drygas, Wojciech;
Płoski, Rafał

Publication type:

Article

Premature ovarian failure due to tetrasomy X in an adolescent girl.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1627, doi. 10.1007/s00431-013-2209-y

By:

Kara, Cengiz;
Üstyol, Ala;
Yılmaz, Ayşegül;
Altundağ, Engin;
Oğur, Gönül

Publication type:

Article

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.

Published in:

2010

By:

Reardon, William;
Donoghue, Veronica;
Murphy, Anne-Marie;
King, Mary D.;
Mayne, Philip D.;
Horn, Nina;
Møller, Lisbeth Birk;
Birk Møller, Lisbeth

Publication type:

journal article

Umbilical angiectases as the sole clinical sign of Fabry disease in a 9-year-old boy.

Published in:

2006

By:

Eggert, Andreas O.;
Wouml;ssner, Rupert;
Knoll, Anita;
Hamm, Henning;
Wanner, Christoph;
Breunig, Frank B.;
Wössner, Rupert

Publication type:

journal article

X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency.

Published in:

2006

By:

Alangari, Abdullah;
Abobaker, Abdullah;
Kanegane, Hirokazu;
Miyawaki, Toshio

Publication type:

journal article

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

Published in:

European Journal of Pediatrics, 2003, v. 162, n. 11, p. 767

By:

Gal, Andreas;
Ries, Markus;
Beck, Michael;
Whybra, Catharina;
Ramaswami, Uma;
Parini, Rossella;
Lind blad, Bengt;
Willers, Ingrid

Publication type:

Article

A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.

Published in:

2002

By:

Touraine, Renaud-Laurian;
Zeniou, Maria;
Hanauer, André

Publication type:

journal article

The first case of the FRAXE form of inherited mental retardation in Croatia.

Published in:

European Journal of Pediatrics, 2002, v. 161, n. 2, p. 112

By:

Hecimovic, Silva;
Bago, Ruzica;
Muzinic, Dubravka;
Begovic, Davor;
Pavelic, Krešimir

Publication type:

Article

Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.626924

By:

Ishizuka, Bunpei

Publication type:

Article

Is Neutropenia a Clue for Early Diagnosis of X-Linked Agammaglobulinemia?

Published in:

Pediatric Hematology & Oncology, 2003, v. 20, n. 8, p. 657, doi. 10.1080/08880010390243103

By:

Tavil, Betul;
Sipahi, Tansu

Publication type:

Article

Oral-facial-digital syndrome type 1: a review.

Published in:

Bangladesh Journal of Medical Science, 2015, v. 14, n. 2, p. 130, doi. 10.3329/bjms.v14i2.22781

By:

Adyanthaya, A.;
Adyanthaya, S.

Publication type:

Article

Dental and Histologic Findings of X-linked Hypophosphataemic Vitamin D-resistant Rickets: A Case Report.

Published in:

International Dental & Medical Disorders, 2008, v. 1, n. 1, p. 37

By:

Tumen, Emin Caner;
Yavuz, Izzet;
Tumen, Demet Suer;
Atakul, Fatma

Publication type:

Article

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 285, doi. 10.1038/ejhg.2009.159

By:

Rio, Marlène;
Malan, Valérie;
Boissel, Sarah;
Toutain, Annick;
Royer, Ghislaine;
Gobin, Stéphanie;
Morichon-Delvallez, Nicole;
Turleau, Catherine;
Bonnefont, Jean-Paul;
Munnich, Arnold;
Vekemans, Michel;
Colleaux, Laurence

Publication type:

Article

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1325, doi. 10.1038/ejhg.2009.52

By:

Hilton, Emma;
Johnston, Jennifer;
Whalen, Sandra;
Okamoto, Nobuhiko;
Hatsukawa, Yoshikazu;
Nishio, Juntaro;
Kohara, Hiroshi;
Hirano, Yoshiko;
Mizuno, Seiji;
Torii, Chiharu;
Kosaki, Kenjiro;
Manouvrier, Sylvie;
Boute, Odile;
Perveen, Rahat;
Law, Caroline;
Moore, Anthony;
Fitzpatrick, David;
Lemke, Johannes;
Fellmann, Florence;
Debray, François-Guillaume

Publication type:

Article

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 4, p. 444, doi. 10.1038/ejhg.2008.208

By:

Lugtenberg, Dorien;
Kleefstra, Tjitske;
Oudakker, Astrid R.;
Nillesen, Willy M.;
Yntema, Helger G.;
Tzschach, Andreas;
Raynaud, Martine;
Rating, Dietz;
Journel, Hubert;
Chelly, Jamel;
Goizet, Cyril;
Lacombe, Didier;
Pedespan, Jean-Michel;
Echenne, Bernard;
Tariverdian, Gholamali;
O'Rourke, Declan;
King, Mary D;
Green, Andrew;
van Kogelenberg, Margriet;
Van Esch, Hilde

Publication type:

Article

Fragile X syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 6, p. 666, doi. 10.1038/ejhg.2008.61

By:

Garber, Kathryn B.;
Visootsak, Jeannie;
Warren, Stephen T.

Publication type:

Article

XLMR genes: update 2007.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 4, p. 422, doi. 10.1038/sj.ejhg.5201994

By:

Chiurazzi, Pietro;
Schwartz, Charles E;
Gecz, Jozef;
Neri, Giovanni

Publication type:

Article

Attitudes regarding carrier testing in incompetent children: a survey of European clinical geneticists.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1211, doi. 10.1038/sj.ejhg.5201909

By:

Borry, Pascal;
Goffin, Tom;
Nys, Herman;
Dierickx, Kris

Publication type:

Article

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1094, doi. 10.1038/sj.ejhg.5201878

By:

Thienpont, Bernard;
de Ravel, Thomy;
Van Esch, Hilde;
Van Schoubroeck, Dominique;
Moerman, Philippe;
Vermeesch, Joris Robert;
Fryns, Jean-Pierre;
Froyen, Guy;
Lacoste, Caroline;
Badens, Catherine;
Devriendt, Koen

Publication type:

Article

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 628, doi. 10.1038/sj.ejhg.5201799

By:

Renault, Nisa K.;
Dyack, Sarah;
Dobson, Melanie J.;
Costa, Teresa;
Lam, Wan L.;
Greer, Wenda L.

Publication type:

Article

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1189, doi. 10.1038/sj.ejhg.5201682

By:

Knudsen, Gun Peggy S.;
Neilson, Tracey C. S.;
Pedersen, June;
Kerr, Alison;
Schwartz, Marianne;
Hulten, Maj;
Bailey, Mark E. S.;
Ørstavik, Karen Helene

Publication type:

Article

Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 838, doi. 10.1038/sj.ejhg.5201615

By:

Tomatsu, Shunji;
Sukegawa, Kazuko;
Trandafirescu, Georgeta G;
Gutierrez, Monica A;
Nishioka, Tatsuo;
Yamaguchi, Seiji;
Orii, Tadao;
Froissart, Roseline;
Maire, Irene;
Chabas, Amparo;
Cooper, Alan;
Di Natale, Paola;
Gal, Andreas;
Noguchi, Akihiko;
Sly, William S

Publication type:

Article

Carrier testing in minors: a systematic review of guidelines and position papers.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 2, p. 133, doi. 10.1038/sj.ejhg.5201509

By:

Borry, Pascal;
Fryns, Jean-Pierre;
Schotsmans, Paul;
Dierickx, Kris

Publication type:

Article