Works matching DE "HUMAN chromosome abnormalities"

Results: 1183

A regulator of Dscam mutually exclusive splicing fidelity.

Published in:

Nature Structural & Molecular Biology, 2007, v. 14, n. 12, p. 1134, doi. 10.1038/nsmb1339

By:

Olson, Sara;
Blanchette, Marco;
Park, Jung;
Savva, Yiannis;
Yeo, Gene W.;
Yeakley, Joanne M.;
Rio, Donald C.;
Graveley, Brenton R.

Publication type:

Article

Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21.

Published in:

2011

By:

Martinez-Garcia, Monica;
Ainse, Eva;
García-Hoyos, Maria;
Bustamante, Ana;
Cardero, Rocio;
Ramos-Corrales, Carmen;
Trujillo-Tiebas, Maria;
Alba, Marta;
Lorda, Isabel

Publication type:

Report

PGS-FISH in reproductive medicine and perspective directions for improvement: a systematic review.

Published in:

Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 8, p. 747, doi. 10.1007/s10815-011-9578-9

By:

Zamora, Sandra;
Clavero, Ana;
Gonzalvo, M.;
de Dios Luna del Castillo, Juan;
Roldán-Nofuentes, Jose;
Mozas, Juan;
Castilla, Jose

Publication type:

Article

Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST.

Published in:

Journal of Assisted Reproduction & Genetics, 2007, v. 24, n. 4, p. 131, doi. 10.1007/s10815-006-9096-3

By:

Kagami, Masayo;
Nagai, Toshiro;
Fukami, Maki;
Yamazawa, Kazuki;
Ogata, Tsutomu

Publication type:

Article

Down syndrome and precocious menopause.

Published in:

Journal of Assisted Reproduction & Genetics, 2005, v. 22, n. 3, p. 129, doi. 10.1007/s10815-005-4878-6

By:

Bartmann, Ana Karina;
Araújo, Francielle M.;
Iannetta, Odilon;
Paneto, João C.C.;
Martelli, Lúcia;
Ramos, Ester Silveria

Publication type:

Article

The subjective experience of individuals with Down syndrome living with dementia.

Published in:

2007

By:

Lloyd V;
Kalsy S;
Gatherer A

Publication type:

Journal Article

Recent advances in ideas on the molecular pathology and clinical aspects of Von Hippel-Lindau disease.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 283, doi. 10.1007/s10147-004-0415-3

By:

Shuin, Taro;
Yamazaki, Ichiro;
Tamura, Kenji;
Kamada, Masayuki;
Ashida, Shingo

Publication type:

Article

In vitro genotoxicity of chlorinated drinking water processed from humus-rich surface water.

Published in:

Bulletin of Environmental Contamination & Toxicology, 1988, v. 41, n. 4-6, p. 712, doi. 10.1007/BF02021023

By:

Liimatainen, A.;
Grummt, T.

Publication type:

Article

In vitro effect of monocrotophos on human lymphocytes.

Published in:

Bulletin of Environmental Contamination & Toxicology, 1988, v. 41, n. 4-6, p. 737, doi. 10.1007/BF02021026

By:

Rupa, D.;
Lakshman Rao, P.;
Reddy, P.;
Reddi, O.

Publication type:

Article

In vitro induction of alterations in peripheral blood lymphocytes by different doses of diazinon.

Published in:

Bulletin of Environmental Contamination & Toxicology, 1986, v. 37, n. 1, p. 517, doi. 10.1007/BF01607798

By:

Lopez, D.;
Aleixandre, C.;
Merchan, M.;
Carrascal, E.

Publication type:

Article

Treatment of cutaneous and mucosal telangiectases in hereditary hemorrhagic telangiectasia: Report of three cases.

Published in:

Journal of Cosmetic & Laser Therapy, 2007, v. 9, n. 1, p. 29, doi. 10.1080/14764170601091687

By:

Fernández‐Jorge, Beatriz;
Losada, Jesús Del Pozo;
Paradela, Sabela;
Martínez‐González, Covadonga;
Fonseca, Edvardo

Publication type:

Article

Oral subchronic toxicity study and genetic toxicity evaluation of mitoquinone mesylate.

Published in:

Journal of Applied Toxicology, 2024, v. 44, n. 10, p. 1555, doi. 10.1002/jat.4654

By:

Mitchell, E. Siobhan;
Lemke, Shawna;
Woodhead, Brendon;
Coleman, David

Publication type:

Article

Chromosome Structural Alteration an Unusual Abnormality Characterizing Human Neoplasia.

Published in:

Novelty in Biomedicine, 2016, n. 2, p. 77

By:

Movafagh, Abolfazl;
Zare-Abdollahi, Davood;
Emamalizadeh, Babak;
Shahvaisizadeh, Farhad;
Mansouri, Neda;
Hashemi, Mehrdad;
Pour, Atefeh Heidary;
Heidari, Mohammad Hassan;
Tonekaboni, Seyed Hassan

Publication type:

Article

CHECKLIST ASSESSMENTS OF FMR1 GENE MUTATION PHENOTYPES.

Published in:

Journal of Cultural Diversity, 2008, v. 15, n. 3, p. 117

By:

Thomas Johnson, Vanessa A.

Publication type:

Article

Impaired vagal modulation of heart rate in individuals with Down syndrome.

Published in:

Clinical Autonomic Research, 2005, v. 15, n. 1, p. 45, doi. 10.1007/s10286-005-0235-1

By:

Figueroa, Arturo;
Collier, Scott;
Baynard, Tracy;
Giannopoulou, Ifigenia;
Goulopoulou, Styliani;
Fernhall, Bo

Publication type:

Article

Proliferative kidney disease (PKD) of rainbow trout: temperature- and time-related changes of Tetracapsuloides bryosalmonae DNA in the kidney.

Published in:

Parasitology, 2009, v. 136, n. 6, p. 615, doi. 10.1017/S0031182009005800

By:

Bettge, K.;
Segner, H.;
Burki, R.;
Schmidt-Posthaus51, H.;
Wahli, T.

Publication type:

Article

Adults With Down Syndrome Performed Repetitive Movements Fast With Continuous Music Cues.

Published in:

Journal of Motor Learning & Development, 2014, v. 2, n. 3, p. 47, doi. 10.1123/jmld.2014-0040

By:

Ringenbach, Shannon D. R.;
Zimmerman, Kristina;
Chih Chia Chen;
Mulvey, Genna M.;
Holzapfel, Simon D.;
Weeks, Daniel J.;
Thaut, Michael H.

Publication type:

Article

TESTIKULÁRNI ANEUPLOIDIE SPERMIÍ MUŽŮ S TRANSVERZÁLNÍ LÉZÍ MÍŠNÍ.

Published in:

Czech Urology / Ceska Urologie, 2013, v. 17, n. 1, p. 36

By:

Heráček, Jiří;
Sobotka, Vladimír;
Vozdová, Miluše;
Rubeš, Jiří;
Urban, Michael;
Grill, Robert

Publication type:

Article

CONGENITAL ICHTHYOSIFORM ERYTHRODERMA TREATED BY HYPNOSIS.

Published in:

British Journal of Dermatology, 1966, v. 78, n. 2, p. 101, doi. 10.1111/j.1365-2133.1966.tb12182.x

By:

Kidd, Cecil B.

Publication type:

Article

Expressive language in male adolescents with fragile X syndrome with and without comorbid autism.

Published in:

Journal of Intellectual Disability Research, 2010, v. 54, n. 3, p. 246, doi. 10.1111/j.1365-2788.2010.01255.x

By:

Kover, S. T.;
Abbeduto, L.

Publication type:

Article

Commonalities in the neurobiology between autism and fragile X.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 817, doi. 10.1111/j.1365-2788.2008.01120_5.x

By:

Hagerman, R.

Publication type:

Article

Gender differences in repetitive language in fragile X syndrome.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 5, p. 387, doi. 10.1111/j.1365-2788.2006.00888.x

By:

Murphy, M. M.;
Abbeduto, L.

Publication type:

Article

A multidisciplinary approach to the management of individuals with fragile X syndrome.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 2, p. 151, doi. 10.1111/j.1365-2788.2006.00942.x

By:

Alanay, Y.;
Ünal, F.;
Turanlı, G.;
Alikaşifoğlu, M.;
Alehan, D.;
Akyol, U.;
Belgin, E.;
Şener, C.;
Aktaş, D.;
Boduroğlu, K.;
Utine, E.;
Volkan‐Salancı, B.;
Özusta, Ş.;
Genç, A.;
Başar, F.;
Sevinç, Ş.;
Tunçbilek, E.

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

A language programme to increase the verbal production of a child dually diagnosed with Down syndrome and autism.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 2, p. 101, doi. 10.1111/j.1365-2788.2005.00734.x

By:

Kroeger, K. A.;
Nelson, W. M.

Publication type:

Article

Stability and change in cognitive ability over the life span: a comparison of populations with and without Down's syndrome.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 12, p. 915, doi. 10.1111/j.1365-2788.2005.00735.x

By:

Carr, J.

Publication type:

Article

Handicaps and the development of skills between childhood and early adolescence in young people with severe intellectual disabilities.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 12, p. 877, doi. 10.1111/j.1365-2788.2005.00716.x

By:

Chadwick, O.;
Cuddy, M.;
Kusel, Y.;
Taylor, E.

Publication type:

Article

Obesity in adults with Down syndrome: a case–control study.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 2, p. 125, doi. 10.1111/j.1365-2788.2004.00616.x

By:

Melville, C. A.;
Cooper, S.‐A.;
McGrother, C. W.;
Thorp, C. F.;
Collacott, R.

Publication type:

Article

Letter to the editor.

Published in:

2004

By:

Buxhoeveden, Daniel;
Casanova, Manuel F.

Publication type:

Letter

The modified CAMDEX informant interview is a valid and reliable tool for use in the diagnosis of dementia in adults with Down's syndrome.

Published in:

Journal of Intellectual Disability Research, 2004, v. 48, n. 6, p. 611, doi. 10.1111/j.1365-2788.2004.00630.x

By:

Ball, S. L.;
Holland, A. J.;
Huppert, F. A.;
Treppner, P.;
Watson, P.;
Hon, J.

Publication type:

Article

Verbal short-term memory in Down's syndrome: An articulatory loop deficit?

Published in:

Journal of Intellectual Disability Research, 2004, v. 48, n. 2, p. 80, doi. 10.1111/j.1365-2788.2004.00478.x

By:

Vicari, S.;
Marotta, L.;
Carlesimo, G. A.

Publication type:

Article

Sentence memory of individuals with Down's syndrome and typically developing children.

Published in:

Journal of Intellectual Disability Research, 2004, v. 48, n. 2, p. 160, doi. 10.1111/j.1365-2788.2004.00526.x

By:

Seung, H.‐K.;
Chapman, R.

Publication type:

Article

A pilot study of the reliability and validity of the Caregiver Activity Survey – Intellectual Disability (CAS-ID).

Published in:

Journal of Intellectual Disability Research, 2002, v. 46, n. 8, p. 605, doi. 10.1046/j.1365-2788.2002.00437.x

By:

McCarron, M.;
Gill, M.;
Lawlor, B.;
Beagly, C.

Publication type:

Article

Word-length effect in verbal short-term memory in individuals with Down's syndrome.

Published in:

Journal of Intellectual Disability Research, 2002, v. 46, n. 8, p. 613, doi. 10.1046/j.1365-2788.2002.00438.x

By:

Kanno, K.;
Ikeda, Y.

Publication type:

Article

A story description task in children with Down's syndrome: lexical and morphosyntactic abilities.

Published in:

Journal of Intellectual Disability Research, 1997, v. 41, n. 2, p. 165, doi. 10.1111/j.1365-2788.1997.tb00693.x

By:

Fabbretti, D.;
Pizzuto, E.;
Vicari, S.;
Volterra, V.

Publication type:

Article

Comparison of the types of child utterances mothers expand in children with language delays and with Down's syndrome.

Published in:

Journal of Intellectual Disability Research, 1996, v. 40, n. 6, p. 557, doi. 10.1111/j.1365-2788.1996.tb00667.x

By:

Yoder, P. J.;
Hooshyar, N.;
Klee, T.;
Schaffer, M.

Publication type:

Article

Hypothalamic versus pituitary dysfunction in Down's syndrome as cause of growth retardation.

Published in:

Journal of Intellectual Disability Research, 1996, v. 40, n. 6, p. 509, doi. 10.1111/j.1365-2788.1996.tb00661.x

By:

Castells, S.;
Beaulieu, I.;
Torrado, C.;
Wisniewski, K. E.;
Zarny, S.;
Gelato, M. C.

Publication type:

Article

The recognition and investigation of X-linked learning disability syndromes.

Published in:

Journal of Intellectual Disability Research, 1996, v. 40, n. 5, p. 400, doi. 10.1111/j.1365-2788.1996.tb00647.x

By:

Feldman, E. J.

Publication type:

Article

Growth curves of Dutch children with Down's syndrome.

Published in:

Journal of Intellectual Disability Research, 1996, v. 40, n. 5, p. 412, doi. 10.1111/j.1365-2788.1996.tb00648.x

By:

Cremers, M. J. G.;
van der Tweel, I.;
Boersma, B.;
Wit, J. M.;
Zonderland, M.

Publication type:

Article

Normal ageing in adults with Down's syndrome: a longitudinal study.

Published in:

Journal of Intellectual Disability Research, 1996, v. 40, n. 3, p. 208, doi. 10.1111/j.1365-2788.1996.tb00624.x

By:

Devenny, D. A.;
Silverman, W. P.;
Hill, A. L.;
Jenkins, E.;
Sersen, E. A.;
Wisniewski, K. E.

Publication type:

Article

Trainee teachers' attitudes to inclusive education for children with Down's syndrome.

Published in:

Journal of Intellectual Disability Research, 1996, v. 40, n. 1, p. 56, doi. 10.1111/j.1365-2788.1996.tb00603.x

By:

Wishart, J. G.;
Manning, G.

Publication type:

Article

Visual acuity and accommodation in infants and young children with Down's syndrome.

Published in:

Journal of Intellectual Disability Research, 1996, v. 40, n. 1, p. 49, doi. 10.1111/j.1365-2788.1996.tb00602.x

By:

Woodhouse, J. M.;
Pakeman, V. H.;
Saunders, K. J.;
Parker, M.;
Fraser, W. I.;
Lobo, S.;
Sastry, P.

Publication type:

Article

A lethal case of atlantoaxial dislocation in a 56-year-old woman with Down's syndrome.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 447, doi. 10.1111/j.1365-2788.1995.tb00550.x

By:

Saad, K. F. G.

Publication type:

Article

Overweight and obesity amongst Down's syndrome adults.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 437, doi. 10.1111/j.1365-2788.1995.tb00548.x

By:

Prasher, V. P.

Publication type:

Article

Behavioural disturbance in people with Down's syndrome and dementia.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 432, doi. 10.1111/j.1365-2788.1995.tb00547.x

By:

Prasher, V. P.;
Filer, A.

Publication type:

Article

Two longitudinal studies of the abilities of people with Down's syndrome.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 419, doi. 10.1111/j.1365-2788.1995.tb00546.x

By:

Shepperdson, B.

Publication type:

Article

Ageing in adults with Down's syndrome in institutionally based and community-based residences.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 399, doi. 10.1111/j.1365-2788.1995.tb00544.x

By:

Roeden, J. M.;
Zitman, F. G.

Publication type:

Article

Adaptive behaviour after schizophrenia in people with Down's syndrome.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 3, p. 201, doi. 10.1111/j.1365-2788.1995.tb00502.x

By:

Cooper, S-.A.;
Duggirala, C.;
Collacott, R. A.

Publication type:

Article

The effect of age on language in people with Down's syndrome.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 3, p. 197, doi. 10.1111/j.1365-2788.1995.tb00501.x

By:

Cooper, S.-A.;
Collacott, R. A.

Publication type:

Article

Oral zinc supplementation in Down's syndrome subjects decreased infections and normalized some humoral and cellular immune parameters.

Published in:

Journal of Intellectual Disability Research, 1994, v. 38, n. 2, p. 149, doi. 10.1111/j.1365-2788.1994.tb00370.x

By:

Licastro, F.;
Chiricolo, M.;
Mocchegiani, E.;
Fabris, N.;
Zannoti, M.;
Beltrandi, E.;
Mancini, R.;
Parente, R.;
Arena, G.;
Masi, M.

Publication type:

Article