Works matching DE "X-linked intellectual disabilities"

Results: 227

Nutritional education for management of osteodystrophy: Impact on serum phosphorus, quality of life, and malnutrition.

Published in:

Hemodialysis International, 2016, v. 20, n. 3, p. 432, doi. 10.1111/hdi.12405

By:

Karavetian, Mirey;
Elzein, Hafez;
Rizk, Rana;
Jibai, Rime;
de Vries, Nanne

Publication type:

Article

ATR-X Syndrome mimicking Down syndrome: A diagnostic challenge with psychiatric implications.

Published in:

2025

By:

Patra, Sriparno;
Ghosh, Soumitra;
Saharia, Barasha

Publication type:

Letter to the Editor

Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages.

Published in:

Chromosome Research, 2009, v. 17, n. 6, p. 811

By:

Matthias Kohn;
Hildegard Kehrer-Sawatzki;
Reinald Fundele

Publication type:

Article

Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta.

Published in:

Osteoporosis International, 2022, v. 33, n. 5, p. 1177, doi. 10.1007/s00198-021-06228-3

By:

Valera Ribera, C;
Martinez-Ferrer, À;
Flores Fernández, E;
Vázquez Gómez, I;
Orenes Vera, A;
Valls Pascual, E;
Ybáñez García, D;
Alegre Sancho, JJ

Publication type:

Article

Rett syndrome: a complex disorder with simple roots.

Published in:

Nature Reviews Genetics, 2015, v. 16, n. 5, p. 261, doi. 10.1038/nrg3897

By:

Lyst, Matthew J.;
Bird, Adrian

Publication type:

Article

MicroRNA-509-3p inhibits cell proliferation and invasion via downregulation of X-linked inhibitor of apoptosis in glioma.

Published in:

Oncology Letters, 2018, v. 15, n. 1, p. 1307, doi. 10.3892/ol.2017.7390

By:

Du, Peng;
Luan, Xinping;
Liao, Yiwei;
Mu, Yiti;
Yuan, Yang;
Xu, Jingxuan;
Zhang, Jingjing

Publication type:

Article

The cognitive and behavioural phenotype of Roifman syndrome.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 9, p. 690, doi. 10.1111/j.1365-2788.2006.00817.x

By:

De Vries, P. J.;
McCartney, D. L.;
McCartney, E.;
Woolf, D.;
Wozencroft, D.

Publication type:

Article

The neuropathological consequences of CDKL5 mutation.

Published in:

Neuropathology & Applied Neurobiology, 2012, v. 38, n. 7, p. 744, doi. 10.1111/j.1365-2990.2012.01292.x

By:

Paine, S. M. L.;
Munot, P.;
Carmichael, J.;
Das, K.;
Weber, M. A.;
Prabhakar, P.;
Jacques, T. S.

Publication type:

Article

Menkes Disease Presenting with Epilepsia Partialis Continua.

Published in:

Case Reports in Neurological Medicine, 2014, p. 1, doi. 10.1155/2014/525784

By:

Rizk, Tamer;
Mahmoud, Adel;
Jamali, Tahani;
Al-Mubarak, Salah

Publication type:

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

Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 3, p. 515, doi. 10.1007/s00431-011-1597-0

By:

Momoi, Nobuo;
Chang, Bo;
Takeda, Izumi;
Aoyagi, Yoshimichi;
Endo, Kisei;
Ichida, Fukiko

Publication type:

Article

A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Published in:

2011

By:

Bae, Keun;
Kim, Bo;
Choi, Jin-Ho;
Lee, Joo;
Park, Young;
Kim, Gu-Hwan;
Yoo, Han;
Seo, Jong;
Bae, Keun Wook;
Kim, Bo Eun;
Lee, Joo Hoon;
Park, Young Seo;
Yoo, Han Wook;
Seo, Jong Jin

Publication type:

journal 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

Elevated TSH levels in a mentally retarded boy.

Published in:

2010

By:

Crushell, Ellen;
Reardon, William

Publication type:

journal article

Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: two Taiwanese patients.

Published in:

European Journal of Pediatrics, 2003, v. 162, n. 11, p. 781, doi. 10.1007/s00431-003-1301-0

By:

Yang-Hau Van, Joop;
Ju-Li Lin, Joop;
Shiu-Feng Huang;
Chih-Cheng Luo;
Chen-Sheng Hwang, Joop;
Fu-Sung Lo

Publication type:

Article

Mental retardation, peculiar facial dysmorphism and HbH inclusions in a 4-year-old boy.

Published in:

2002

By:

Valenzise, Mariella;
Ferrero, Battista;
Tosi, Teresa;
Ferraris, Silvio;
Silengo, Margherita;
Ferrero, Giovanni Battista;
Tosi, Maria Teresa

Publication type:

journal 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

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1577, doi. 10.1038/ejhg.2009.95

By:

Jacob, Francois Dominique;
Ramaswamy, Vijay;
Andersen, John;
Bolduc, Francois V.

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

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1358, doi. 10.1038/ejhg.2008.103

By:

Rejeb, Imen;
Saillour, Yoann;
Castelnau, Laetitia;
Julien, Cédric;
Bienvenu, Thierry;
Taga, Patricia;
Chaabouni, Habiba;
Chelly, Jamel;
Jemaa, Lamia Ben;
Bahi-Buisson, Nadia

Publication type:

Article

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1029, doi. 10.1038/ejhg.2008.66

By:

Frints, Suzanna Gerarda Maria;
Lenzner, Steffen;
Bauters, Mareike;
Jensen, Lars Riff;
Van Esch, Hilde;
des Portes, Vincent;
Moog, Ute;
Macville, Merryn Victor Erik;
van Roozendaal, Kees;
Schrander-Stumpel, Constance Theresia Rimbertha Maria;
Tzschach, Andreas;
Marynen, Peter;
Fryns, Jean-Pierre;
Hamel, Ben;
van Bokhoven, Hans;
Chelly, Jamel;
Beldjord, Chérif;
Turner, Gillian;
Gecz, Jozef;
Moraine, Claude

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

Patient mutations alter ATRX targeting to PML nuclear bodies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 2, p. 192, doi. 10.1038/sj.ejhg.5201943

By:

Bérubé, Nathalie G.;
Healy, Jasmine;
Medina, Chantal F.;
Wu, Shaobo;
Hodgson, Todd;
Jagla, Magdalena;
Picketts, David J.

Publication type:

Article

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 68, doi. 10.1038/sj.ejhg.5201714

By:

Jensen, Lars Riff;
Lenzner, Steffen;
Moser, Bettina;
Freude, Kristine;
Tzschach, Andreas;
Wei, Chen;
Fryns, Jean-Pierre;
Chelly, Jamel;
Turner, Gillian;
Moraine, Claude;
Hamel, Ben;
Ropers, Hans-Hilger;
Kuss, Andreas Walter

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

A novel mutation in JARID1C gene associated with mental retardation.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 583, doi. 10.1038/sj.ejhg.5201608

By:

Santos, Cristina;
Rodriguez-Revenga, Laia;
Madrigal, Irene;
Badenas, Celia;
Pineda, Merce;
Milà, Montserrat

Publication type:

Article

Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 689, doi. 10.1038/sj.ejhg.5201247

By:

Mandel, Jean-Louis;
Chelly, Jamel

Publication type:

Article

A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 1, p. 29, doi. 10.1038/sj.ejhg.5201085

By:

Kohn, Matthias;
Steinbach, Peter;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 937, doi. 10.1038/sj.ejhg.5201072

By:

Cason, A. Lauren;
Ikeguchi, Yoshihiko;
Skinner, Cindy;
Wood, Tim C.;
Holden, Kenton R.;
Lubs, Herbert A.;
Martinez, Francisco;
Simensen, Richard J.;
Stevenson, Roger E.;
Pegg, Anthony E.;
Schwartz, Charles E.

Publication type:

Article

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.

Published in:

Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2015.00083

By:

Long, Philip;
May, Melanie M.;
James, Victoria M.;
Grannò, Simone;
Johnson, John P.;
Tarpey, Patrick;
Stevenson, Roger E.;
Harvey, Kirsten;
Schwartz, Charles E.;
Harvey, Robert J.;
De Blas, Angel L.;
Bassani, Silvia

Publication type:

Article

Early therapeutic intervention in females with Fabry disease?

Published in:

Acta Paediatrica, 2008, p. 41, doi. 10.1111/j.1651-2227.2008.00649.x

By:

Hughes, Derralynn A.

Publication type:

Article

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Published in:

Nature Genetics, 2009, v. 41, n. 5, p. 535, doi. 10.1038/ng.367

By:

Tarpey, Patrick S.;
Smith, Raffaella;
Pleasance, Erin;
Whibley, Annabel;
Edkins, Sarah;
Hardy, Claire;
O'Meara, Sarah;
Latimer, Calli;
Dicks, Ed;
Menzies, Andrew;
Stephens, Phil;
Blow, Matt;
Greenman, Chris;
Yali Xue;
Tyler-Smith, Chris;
Thompson, Deborah;
Gray, Kristian;
Andrews, Jenny;
Barthorpe, Syd;
Buck, Gemma

Publication type:

Article

X-cess of variants in XLMR.

Published in:

Nature Genetics, 2009, v. 41, n. 5, p. 510, doi. 10.1038/ng0509-510

By:

Nelson, David L.;
Gibbs, Richard A.

Publication type:

Article

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

Published in:

Nature Genetics, 2008, v. 40, n. 6, p. 776, doi. 10.1038/ng.149

By:

Dibbens, Leanne M.;
Tarpey, Patrick S.;
Hynes, Kim;
Bayly, Marta A.;
Scheffer, Ingrid E.;
Smith, Raffaella;
Bomar, Jamee;
Sutton, Edwina;
Vandeleur, Lucianne;
Shoubridge, Cheryl;
Edkins, Sarah;
Turner, Samantha J.;
Stevens, Claire;
O'Meara, Sarah;
Tofts, Calli;
Barthorpe, Syd;
Buck, Gemma;
Cole, Jennifer;
Halliday, Kelly;
Jones, David

Publication type:

Article

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Published in:

Nature Genetics, 2004, v. 36, n. 4, p. 411, doi. 10.1038/ng1321

By:

Ng, David;
Thakker, Nalin;
Corcoran, Connie M.;
Donnai, Dian;
Perveen, Rahat;
Schneider, Adele;
Hadley, Donald W.;
Tifft, Cynthia;
Zhang, Liqun;
Wilkie, Andrew O. M.;
van der Smagt, Jasper J.;
Gorlin, Robert J.;
Burgess, Shawn M.;
Bardwell, Vivian J.;
Black, Graeme C. M.;
Biesecker, Leslie G.

Publication type:

Article

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

Published in:

Nature Genetics, 2003, v. 35, n. 4, p. 313, doi. 10.1038/ng1264

By:

Freude, Kristine;
Sefiani, Abdelaziz;
Hoffmann, Kirsten;
Moser, Bettina;
Haas, Stefan;
Gurok, Ulf;
Haesler, Sebastian;
Aranda, Beatriz;
Nshedjan, Arpik;
Tzschach, Andreas;
Hartmann, Nils;
Roloff, Tim-Christoph;
Shoichet, Sarah;
Hagens, Olivier;
Jiong Tao, Olivier;
Turner, Gillian;
Chelly, Jamel;
Moraine, Claude;
Fryns, Jean-Pierre;
Kalscheuer, Vera M.

Publication type:

Article

Incontinentia pigmenti: a case report and literature review.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 2, p. 190

By:

Emre, Sinan;
Fİrat, Yezdan;
Güngör, Serdal;
Fİrat, Ahmet Kemal;
Karİncaoğlu, Yelda

Publication type:

Article

Detection and validation of copy number variation in X-linked mental retardation.

Published in:

Cytogenetic & Genome Research, 2009, v. 123, n. 1-4, p. 44, doi. 10.1159/000184691

By:

Bauters, M.;
Weuts, A.;
Vandewalle, J.;
Nevelsteen, J.;
Marynen, P.;
Van Esch, H.;
Froyen, G.

Publication type:

Article

Rho-linked genes and neurological disorders.

Published in:

Pflügers Archiv: European Journal of Physiology, 2008, v. 455, n. 5, p. 787, doi. 10.1007/s00424-007-0385-1

By:

Kasri, Nael Nadif;
Van Aelst, Linda

Publication type:

Article

Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/ Mag deficiency.

Published in:

Acta Neuropathologica, 2007, v. 114, n. 6, p. 573, doi. 10.1007/s00401-007-0288-4

By:

Dumser, Martina;
Bauer, Jan;
Lassmann, Hans;
Berger, Johannes;
Forss-Petter, Sonja

Publication type:

Article

Molecular Analysis of Two Enzyme Genes, HPRT1 and PRPS1, Causing X-Linked Inborn Errors of Purine Metabolism.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2010, v. 29, n. 4-6, p. 291, doi. 10.1080/15257771003738691

By:

Yamada, Y.;
Yamada, K.;
Nomura, N.;
Yamano, A.;
Kimura, R.;
Tomida, S.;
Naiki, M.;
Wakamatsu, N.

Publication type:

Article

Typical Aicardi syndrome in a male.

Published in:

Acta Neuropsychiatrica, 2007, v. 19, n. 5, p. 326, doi. 10.1111/j.1601-5215.2007.00237.x

By:

Saddichha, Sahoo;
Manjunatha, Narayana;
Akhtar, Sayeed

Publication type:

Article

CUL4B promotes replication licensing by up-regulating the CDK2-CDC6 cascade.

Published in:

Journal of Cell Biology, 2013, v. 200, n. 6, p. 743, doi. 10.1083/jcb.201206065

By:

Yongxin Zou;
Jun Mi;
Wenxing Wang;
Juanjuan Lu;
Wei Zhao;
Zhaojian Liu;
Huili Hu;
Yang Yang;
Xiaoxing Gao;
Baichun Jiang;
Changshun Shao;
Yaoqin Gong

Publication type:

Article

Novel USP9X variants in two patients with X-linked intellectual disability.

Published in:

Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0081-7

By:

Tsurusaki, Yoshinori;
Kuroda, Yukiko;
Yamanouchi, Yasuko;
Kondo, Eisuke;
Ouchi, Kazunobu;
Kimura, Yuichi;
Enomoto, Yumi;
Aida, Noriko;
Masuno, Mitsuo;
Kurosawa, Kenji

Publication type:

Article

FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome.

Published in:

Clinical Case Reports, 2017, v. 5, n. 5, p. 625, doi. 10.1002/ccr3.834

By:

Martínez‐Cerdeño, Verónica;
Lechpammer, Mirna;
Noctor, Stephen;
Ariza, Jeanelle;
Hagerman, Paul;
Hagerman, Randi

Publication type:

Article

Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

Published in:

Clinical Case Reports, 2015, v. 3, n. 7, p. 604, doi. 10.1002/ccr3.301

By:

Bouazzi, Habib;
Lesca, Gaetan;
Trujillo, Carlos;
Alwasiyah, Mohammad Khalid;
Munnich, Arnold

Publication type:

Article

A distinct cognitive profile in individuals with 3q29 deletion syndrome.

Published in:

Journal of Intellectual Disability Research, 2023, v. 67, n. 3, p. 216, doi. 10.1111/jir.12919

By:

Klaiman, C.;
White, S. P.;
Saulnier, C.;
Murphy, M.;
Burrell, L.;
Cubells, J.;
Walker, E.;
Mulle, J. G.

Publication type:

Article

Forty years from markers to genes.

Published in:

2008

By:

Mulley, John C.

Publication type:

journal article

The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis.

Published in:

Nature Neuroscience, 2004, v. 7, n. 4, p. 364, doi. 10.1038/nn1210

By:

Govek, Eve-Ellen;
Newey, Sarah E.;
Akerman, Colin J.;
Cross, Justin R.;
Van der Veken, Lieven;
Van Aelst, Linda

Publication type:

Article

X-Iinked imprinting: effects on brain and behaviour.

Published in:

BioEssays, 2006, v. 28, n. 1, p. 35, doi. 10.1002/bies.20341

By:

Davies, William;
Isles, Anthony R.;
Burgoyne, Paul S.;
Wilkinson, Lawrence S.

Publication type:

Article