Works about HUMAN chromosome abnormalities

Results: 1183

An Errorless Approach to Management of Child Noncompliance in a Special Education Setting.

Published in:

School Psychology Review, 2005, v. 34, n. 1, p. 107, doi. 10.1080/02796015.2005.12086278

By:

Ducharme, Joseph M.;
DiAdamo, Carolyn

Publication type:

Article

Evolution of Genomic Imprinting with Biparental Care: Implications for Prader-Willi and Angelman Syndromes.

Published in:

PLoS Biology, 2008, v. 6, n. 8, p. e208, doi. 10.1371/journal.pbio.0060208

By:

Úbeda, Francisco

Publication type:

Article

Caracterización: fenotípica de varones adultos con diagnóstico de síndrome X frágil.

Published in:

Psychosocial Intervention, 2008, v. 17, n. 2, p. 201

By:

ALONSO, M. ISABEL GARCÍA;
GÓMEZ, M. BEGOÑA MEDINA

Publication type:

Article

Long-term treatment of antiphospholipid syndrome-associated cerebral arterial thromboses with intravenous immunoglobulin: a case report.

Published in:

Clinical Rheumatology, 2007, v. 26, n. 2, p. 251, doi. 10.1007/s10067-005-0127-8

By:

Arabshahi, B.;
Thompson, E. D.;
Smergel, E. M.;
Goldsmith, D. P.

Publication type:

Article

The influence of trisomy 21 on the incidence and severity of congenital heart defects in patients with duodenal atresia.

Published in:

2008

By:

Keckler, Scott J.;
St. Peter, Shawn D.;
Spilde, Tro L.y;
Ostlie, Daniel J.;
Snyder, Charles L.;
Spilde, Troy L

Publication type:

journal article

Down syndrome and the enteric nervous system.

Published in:

2008

By:

Moore, S. W.

Publication type:

journal article

The impact of Down's syndrome on the immediate and long-term outcomes of children with Hirschsprung's disease.

Published in:

2006

By:

Morabito, Antonino;
Lall, Anupam;
Gull, Sobbia;
Mohee, Amar;
Bianchi, Adrian

Publication type:

journal article

Ileo-caecal arterio-venous malformation associated with extrahepatic portal hypertension: a case report.

Published in:

2005

By:

Tatekawa, Y.;
Muraji, T.;
Tsugawa, C.

Publication type:

journal article

Incidence of cryptorchidism and ascending testes in Trisomy 21: a 10 year retrospective review.

Published in:

Pediatric Surgery International, 2004, v. 20, n. 10, p. 744, doi. 10.1007/s00383-004-1290-8

By:

Chew, Grace;
Hutson, John M.

Publication type:

Article

cDNA cloning and distribution of XEXT1, the Xenopus homologue of EXT1.

Published in:

Development Genes & Evolution, 2002, v. 212, n. 5, p. 248, doi. 10.1007/s00427-002-0237-0

By:

Katada, Tomohisa;
Oogami, Shunji;
Shima, Naoya;
Kinoshita, Tsutomu

Publication type:

Article

Subject Index Vol. 178, 2004.

Published in:: Cells Tissues Organs, 2004, v. 178, n. 4, p. 246, doi. 10.1159/000084918
Publication type:: Article

Altered ATP-Sensitive P2 Receptor Subtype Expression in the Han:SPRD cy/+ Rat, a Model of Autosomal Dominant Polycystic Kidney Disease.

Published in:

Cells Tissues Organs, 2004, v. 178, n. 3, p. 168, doi. 10.1159/000082247

By:

Turner, C. M.;
Ramesh, B.;
Srai, S. K. S.;
Burnstock, G.;
Unwin, R. J.

Publication type:

Article

Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?

Published in:

Journal of Child Psychology & Psychiatry, 2007, v. 48, n. 6, p. 571, doi. 10.1111/j.1469-7610.2007.01736.x

By:

Oliver, Chris;
Horsler, Kate;
Berg, Katy;
Bellamy, Gail;
Dick, Katie;
Griffiths, Emily

Publication type:

Article

TEN FINGERS, TEN TOES: NEWBORN SCREENING FOR UNTREATABLE DISORDERS.

Published in:

Health Matrix: Journal of Law-Medicine, 2009, v. 19, n. 1, p. 199

By:

Clayton, Ellen Wright

Publication type:

Article

Improving population health or the population itself? Health technology assessment and our genetic future.

Published in:

International Journal of Technology Assessment in Health Care, 2004, v. 20, n. 2, p. 106, doi. 10.1017/S0266462304000893

By:

Ken Bassett;
Patricia M. Lee;
Carolyn J. Green;
Lisa Mitchell;
Arminée Kazanjian

Publication type:

Article

Higher limb asymmetry in deceased human fetuses and infants with aneuploidy.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep03703

By:

Bots, Jessica;
Ten Broek, Clara M. A.;
Belien, Jeroen A. M.;
Bugiani, Marianna;
Galis, Frietson;
Van Dongen, Stefan

Publication type:

Article

SGOL1 variant B induces abnormal mitosis and resistance to taxane in non-small cell lung cancers.

Published in:

Scientific Reports, 2013, p. 1, doi. 10.1038/srep03012

By:

Shun Matsuura;
Tomoaki Kahyo;
Kazuya Shinmura;
Moriya Iwaizumi;
Hidetaka Yamada;
Kazuhito Funai;
Jun Kobayashi;
Masayuki Tanahashi;
Hiroshi Niwa;
Hiroshi Ogawa;
Takashi Takahashi;
Naoki Inui;
Takafumi Suda;
Kingo Chida;
Yoshinori Watanabe;
Haruhiko Sugimura

Publication type:

Article

Lateralidad en síndrome de Down en edad infantil y adulta. Estudio comparativo.

Published in:

Journal of Psychology & Education / Revista de Psicología y Educación, 2011, v. 6, p. 57

By:

García-Alba, Javier;
Antonio Portellano, José

Publication type:

Article

Anomalies in dermal ridge arrangement in Down's syndrome.

Published in:

2007

By:

Verbov, J.

Publication type:

Letter

Dermatological manifestations of Down's syndrome.

Published in:

Clinical & Experimental Dermatology, 2006, v. 31, n. 5, p. 623, doi. 10.1111/j.1365-2230.2006.02164.x

By:

Madan, V.;
Williams, J.;
Lear, J. T.

Publication type:

Article

Poland's syndrome and recessive X-linked ichthyosis in two brothers.

Published in:

Clinical & Experimental Dermatology, 2000, v. 25, n. 4, p. 308, doi. 10.1046/j.1365-2230.2000.00650.x

By:

Vélez, A.;
Moreno, J.-C.

Publication type:

Article

Generalized elastosis perforans serpiginosa in Down's syndrome.

Published in:

Clinical & Experimental Dermatology, 1992, v. 17, n. 1, p. 31, doi. 10.1111/j.1365-2230.1992.tb02529.x

By:

Donnell, B.O.;
Kelly, P.;
Dervan, P.;
Powell, F.C.

Publication type:

Article

GENETIC COUNSELING: IMPLICATIONS FOR SOCIAL WORK PRACTICE.

Published in:

Clinical Social Work Journal, 1980, v. 8, n. 2, p. 99, doi. 10.1007/BF00761129

By:

Dils, Suzanne Magleby;
Smith, Larry L.

Publication type:

Article

Bridging Uncharted Waters in Georgia: Down Syndrome Association of Atlanta Outreach to Latino/a Families.

Published in:

American Journal of Community Psychology, 2006, v. 37, n. 3/4, p. 219, doi. 10.1007/s10464-006-9055-2

By:

Martorell, Susan J.;
Martorell, Gabriela A.

Publication type:

Article

Alternatively spliced products lacking exon 12 dominate the expression of fragile X mental retardation 1 gene in human tissues.

Published in:

Molecular Medicine Reports, 2015, v. 12, n. 2, p. 1957, doi. 10.3892/mmr.2015.3574

By:

XIANGUO FU;
DEZHU ZHENG;
JUAN LIAO;
QINGQIN LI;
YUXIANG LIN;
DUO ZHANG;
AIZHEN YAN;
FENGHUA LAN

Publication type:

Article

The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes.

Published in:

Journal of Autism & Developmental Disorders, 2009, v. 39, n. 4, p. 572, doi. 10.1007/s10803-008-0655-6

By:

Moss, Joanna;
Oliver, Chris;
Arron, Kate;
Burbidge, Cheryl;
Berg, Katy

Publication type:

Article

Joint Engagement and the Emergence of Language in Children with Autism and Down Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2009, v. 39, n. 1, p. 84, doi. 10.1007/s10803-008-0601-7

By:

Adamson, Lauren B.;
Bakeman, Roger;
Deckner, Deborah F.;
Romski, MaryAnn

Publication type:

Article

Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q.

Published in:

Journal of Autism & Developmental Disorders, 2007, v. 37, n. 8, p. 1585, doi. 10.1007/s10803-006-0228-5

By:

Cohen, David;
Martel, Claire;
Wilson, Anna;
Déchambre, Nicole;
Amy, Céline;
Duverger, Ludovic;
Guile, Jean-Marc;
Pipiras, Eva;
Benzacken, Brigitte;
Cavé, Hélène;
Cohen, Laurent;
Héron, Delphine;
Plaza, Monique

Publication type:

Article

Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism.

Published in:

Journal of Autism & Developmental Disorders, 2007, v. 37, n. 4, p. 703, doi. 10.1007/s10803-006-0196-9

By:

Wassink, Thomas H.;
Losh, Molly;
Piven, Joseph;
Sheffield, Val C.;
Ashley, Elizabeth;
Westin, Erik R.;
Patil, Shivanand R.

Publication type:

Article

Assessing Need for Social Support in Parents of Children with Autism and Down Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2006, v. 36, n. 7, p. 921, doi. 10.1007/s10803-006-0129-7

By:

Siklos, Susan;
Kerns, Kimberly A.

Publication type:

Article

Self-Regulation and Affective Expression During Play in Children with Autism or Down Syndrome: A Short-Term Longitudinal Study.

Published in:

Journal of Autism & Developmental Disorders, 2004, v. 34, n. 4, p. 439, doi. 10.1023/B:JADD.0000037420.16169.28

By:

Bieberich, Andrea A.;
Morgan, Sam B.

Publication type:

Article

Brief report: Duplication of chromosome 15q11-13 in two individuals with autistic disorder.

Published in:

Journal of Autism & Developmental Disorders, 1994, v. 24, n. 4, p. 529, doi. 10.1007/BF02172133

By:

Baker, Peggy;
Piven, Joseph

Publication type:

Article

Down Syndrome.

Published in:

JAMA: Journal of the American Medical Association, 2001, v. 285, n. 8, p. 1112

By:

Pace, Brian;
Lynm, Cassio;
Glass, Richard M.

Publication type:

Article

Dental and skeletal characteristics of patients with Down Syndrome.

Published in:

RGO: Revista Gaúcha de Odontologia, 2013, v. 61, n. 1, p. 121

By:

Gumes de FARIA, Fernanda;
Andrade LAURIA, Roberta;
Vieira BITTENCOURT, Marcos Alan

Publication type:

Article

Telomere shortening and telomere position effect in mild ring 17 syndrome.

Published in:

Epigenetics & Chromatin, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-8935-7-1

By:

Surace, Cecilia;
Berardinelli, Francesco;
Masotti, Andrea;
Roberti, Maria Cristina;
Da Sacco, Letizia;
D'Elia, Gemma;
Sirleto, Pietro;
Digilio, Maria Cristina;
Cusmai, Raffaella;
Grotta, Simona;
Petrocchi, Stefano;
Hachem, May El.;
Pisaneschi, Elisa;
Ciocca, Laura;
Russo, Serena;
Lepri, Francesca Romana;
Sgura, Antonella;
Angioni, Adriano

Publication type:

Article

Flavonoids of the Heartwood of Cotinus coggygria Scop. Showing Protective Effect on Human Lymphocyte DNA.

Published in:

Natural Product Communications, 2021, v. 16, n. 12, p. 1, doi. 10.1177/1934578X211067289

By:

Milosavljevic, Slobodan;
Djordjevic, Iris;
Mandic, Boris;
Tesevic, Vele;
Stankovic, Miroslava;
Todorovic, Nina;
Novakovic, Miroslav

Publication type:

Article

Multiplex analysis of the most common mutations related to hereditary haemochromatosis: two methods combining specific amplification with capillary electrophoresis.

Published in:

European Journal of Haematology, 2004, v. 72, n. 2, p. 121, doi. 10.1046/j.0902-4441.2003.00186.x

By:

Gómez-Llorente, Carolina;
Antúnez, Adelaida;
Blanco, Sonia;
Suarez, Antonio;
Gómez-Capilla, Jose Antonio;
Farez-Vidal, M. Esther

Publication type:

Article

Case report Association of pyoderma gangrenosum and sterile osteomyelitis in a patient having myelodysplastic syndrome with der(1;7)(q10;q10).

Published in:

European Journal of Haematology, 2004, v. 72, n. 2, p. 149, doi. 10.1046/j.0902-4441.2003.00191.x

By:

Yoshida, Chikashi;
Kojima, Hiroshi;
Ishigaki, Taro;
Katsura, Yukitaka;
Kaneko, Shin;
Suzukawa, Kazumi;
Hasegawa, Yuichi;
Kawachi, Yasuhiro;
Otsuka, Fujio;
Nagasawa, Toshiro

Publication type:

Article

Effects of aneuploidy on skull growth in a mouse model of Down syndrome.

Published in:

Journal of Anatomy, 2007, v. 210, n. 4, p. 394, doi. 10.1111/j.1469-7580.2007.00705.x

By:

Hill, Cheryl A.;
Reeves, Roger H.;
Richtsmeier, Joan T.

Publication type:

Article

Accelerated development of object permanence in Down's syndrome infants.

Published in:

Child: Care, Health & Development, 1987, v. 13, n. 4, p. 247, doi. 10.1111/j.1365-2214.1987.tb00541.x

By:

Pasnak, Carol F.;
Pasnak, Robert

Publication type:

Article

Development of Down's syndrome infants with and without heart defects and changes in their caretaking environment.

Published in:

Child: Care, Health & Development, 1987, v. 13, n. 2, p. 87, doi. 10.1111/j.1365-2214.1987.tb00526.x

By:

Barrera, M. E.;
Watson, L. J.;
Adelstein, A.

Publication type:

Article

Down's syndrome and toddler temperament.

Published in:

Child: Care, Health & Development, 1987, v. 13, n. 1, p. 1, doi. 10.1111/j.1365-2214.1987.tb00519.x

By:

Huntington, Gail S.;
Simeonsson, Rune J.

Publication type:

Article

Rippling Muscle Disease in Childhood.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 7, p. 483, doi. 10.1177/088307380201700703

By:

Schara, Ulrike;
Vorgerd, Matthias;
Popovic, Nikola;
Schoser, Benedikt G.H.;
Ricker, Kenneth;
Mortier, Wilhelm

Publication type:

Article

Association of the 677C ... T Mutation on the Methylenetetrahydrofolate Reductase Gene in Turkish...

Published in:

Journal of Child Neurology, 1999, v. 14, n. 3, p. 159

By:

Boduroglu, Koray;
Alikasifoglu, Mehmet;
Anar, Burcu;
Tuncbilek, Ergul

Publication type:

Article

Benign Rolandic Epilepsy and Chromosome 7q Deletion.

Published in:

Journal of Child Neurology, 1997, v. 12, n. 2, p. 148

By:

Burke, Mona S.;
Carroll, James E.;
Burket, Roger C.

Publication type:

Article

Adaptive Skills, Behavior Problems, and Parenting Stress in Mothers of Boys With Fragile X Syndrome.

Published in:

Journal of Mental Health Research in Intellectual Disabilities, 2010, v. 3, n. 1, p. 16, doi. 10.1080/19315860903507819

By:

Sarimski, Klaus

Publication type:

Article

Genes and geneticization? The social construction of autosomal dominant polycystic kidney disease.

Published in:

New Genetics & Society, 2004, v. 23, n. 2, p. 137, doi. 10.1080/1463677042000237071

By:

Cox *, Susan M.;
Starzomski, Rosalie C.

Publication type:

Article

Enhancing Phonological Awareness and Letter Knowledge in Preschool Children with Down Syndrome.

Published in:

International Journal of Disability, Development & Education, 2006, v. 53, n. 3, p. 301, doi. 10.1080/10349120600847706

By:

van Bysterveldt, AnneK.;
Gillon, GailT.;
Moran, Catherine

Publication type:

Article

The Stanford Binet Fourth Edition and Its Use With Individuals With Down Syndrome: cautions for clinicians.

Published in:

International Journal of Disability, Development & Education, 2004, v. 51, n. 1, p. 39, doi. 10.1080/1034912042000182193

By:

Couzens, Donna;
Cuskelly *, Monica;
Jobling, Anne

Publication type:

Article

A COMPARISON OF TIME CHARACTERISTICS IN BALL CATCHING BETWEEN CHILDREN WITH AND WITHOUT DOWN'S SYNDROME.

Published in:

Acta Universitatis Palackianae Olomucensis. Gymnica, 2010, v. 40, n. 1, p. 61

By:

Filipčič, Tjaša

Publication type:

Article