Works about HUMAN chromosome abnormalities

Results: 1183

p53 Alteration and Chromosomal Instability in Prostatic High-Grade Intraepithelial Neoplasia and Concurrent Carcinoma: Analysis by Immunohistochemistry, Interphase In Situ Hybridization, and Sequencing of Laser-Captured Microdissected Specimens.

Published in:

Modern Pathology, 2001, v. 14, n. 12, p. 1252, doi. 10.1038/modpathol.3880471

By:

Al-Maghrabi, Jaudah;
Vorobyova, Lada;
Chapman, William;
Jewett, Michael;
Zielenska, Maria;
Squire, Jeremy A.

Publication type:

Article

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

Recommendations for referral.

Published in:: Patient Care (Print), 1998, v. 32, n. 18, p. 66
Publication type:: Article

Outcomes of renal transplantation in patients with autosomal dominant polycystic kidney disease: a nationwide longitudinal study.

Published in:

Transplant International, 2011, v. 24, n. 6, p. 582, doi. 10.1111/j.1432-2277.2011.01237.x

By:

Jacquet, Antoine;
Pallet, Nicolas;
Kessler, Michèle;
Hourmant, Maryvonne;
Garrigue, Valérie;
Rostaing, Lionel;
Kreis, Henri;
Legendre, Christophe;
Mamzer-Bruneel, Marie-France

Publication type:

Article

The place of liver transplantation in Caroli's disease and syndrome.

Published in:

Transplant International, 2006, v. 19, n. 5, p. 381, doi. 10.1111/j.1432-2277.2006.00292.x

By:

De Kerckhove, Laurent;
De Meyer, Martine;
Verbaandert, Catherine;
Mourad, Michel;
Sokal, Etienne;
Goffette, Pierre;
Geubel, Andre;
Karam, Vincent;
Adam, Rene;
Lerut, Jan

Publication type:

Article

Multislice CT and CT angiography for non-invasive evaluation of bronchopulmonary sequestration.

Published in:

2004

By:

Ahmed, Mukhtiar;
Jacobi, Volkmar;
Vogl, Thomas;
Vogl, Thomas J

Publication type:

journal article

The fetal body compartments and their detection during pregnancy. A review.

Published in:

Acta Diabetologica, 2003, v. 40, p. s79, doi. 10.1007/s00592-003-0033-y

By:

Valensise, H.;
Larciprete, G.;
Arduini, D.;
De Lorenzo, A.

Publication type:

Article

A New Emotional Stroop-Like Task: Application to the Down Syndrome Population.

Published in:

Archives of Clinical Neuropsychology, 2009, v. 24, n. 3, p. 293, doi. 10.1093/arclin/acp036

By:

Hippolyte, Loyse;
Iglesias, Katia;
Barisnikov, Koviljka

Publication type:

Article

A paired comparison of dental care in Canadians with Down syndrome and their siblings without Down syndrome.

Published in:

Community Dentistry & Oral Epidemiology, 2004, v. 32, n. 2, p. 99, doi. 10.1111/j.0301-5661.2004.00130.x

By:

Allison, Paul J.;
Lawrence, Herenia P.

Publication type:

Article

Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 106, doi. 10.1002/mgg3.188

By:

Shastri, Vivek M.;
Schmidt, Kristina H.

Publication type:

Article

Arab gene geography: From population diversities to personalized medical genomics.

Published in:

Global Cardiology Science & Practice, 2014, v. 2014, n. 4, p. 238, doi. 10.5339/gcsp.2014.54

By:

Tadmouri, Ghazi O.;
Sastry, Konduru S.;
Chouchane, Lotfi

Publication type:

Article

Laparoscopically harvested gastroepiploic artery for coronary artery bypass grafting.

Published in:

Digestive Endoscopy, 2013, v. 25, n. 2, p. 213, doi. 10.1111/den.12015

By:

Morimoto, Yoshihisa;
Sugimoto, Takaki;
Miyamoto, Katsufumi

Publication type:

Article

Fetal cardiac axis in tetralogy of Fallot: associations with prenatal findings, genetic anomalies and postnatal outcome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, n. 1, p. 58, doi. 10.1002/uog.15998

By:

Zhao, Y.;
Edington, S.;
Fleenor, J.;
Sinkovskaya, E.;
Porche, L.;
Abuhamad, A.

Publication type:

Article

Nasal bone length, prenasal thickness, prenasal thickness-to-nasal bone length ratio and prefrontal space ratio in second- and third-trimester fetuses with Down syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2015, v. 45, n. 2, p. 211, doi. 10.1002/uog.13391

By:

Vos, F. I.;
De Jong‐Pleij, E. A. P.;
Bakker, M.;
Tromp, E.;
Pajkrt, E.;
Kagan, K. O.;
Bilardo, C. M.

Publication type:

Article

Ductus venosus pulsatility index measurement reduces the false-positive rate in first-trimester screening.

Published in:

Ultrasound in Obstetrics & Gynecology, 2010, v. 36, n. 6, p. 661, doi. 10.1002/uog.7706

By:

Timmerman, E.;
Rengerink, K. Oude;
Pajkrt, E.;
Opmeer, B. C.;
Van Der Post, J. A. M.;
Bilardo, C. M.

Publication type:

Article

Correlation between nuchal translucency and nuchal skin-fold measurements in Down syndrome and unaffected fetuses.

Published in:

Ultrasound in Obstetrics & Gynecology, 2008, v. 32, n. 4, p. 501, doi. 10.1002/uog.5307

By:

Maymon, R.;
Zimerman, A. L.;
Weinraub, Z.;
Herman, A.;
Cuckle, H.

Publication type:

Article

Prenatal detection of trisomy 21 by second-trimester ultrasound examination and maternal age in a non-selected population of 49 314 births in Norway.

Published in:

Ultrasound in Obstetrics & Gynecology, 2008, v. 32, n. 4, p. 493, doi. 10.1002/uog.5373

By:

Offerdal, K.;
Blaas, H.-G. K.;
Eik-Nes, S. H.

Publication type:

Article

OP09.01: The impact of crown rump length measurement error on combined down syndrome screening.

Published in:

Ultrasound in Obstetrics & Gynecology, 2008, v. 32, n. 3, p. 337, doi. 10.1002/uog.5697

By:

Salomon, L. J.;
Bernard, M.;
Bernard, J. P.;
Ville, Y.

Publication type:

Article

Editorial.

Published in:

2008

By:

Lau, T. K.;
Evans, M. I.

Publication type:

Editorial

Fetal growth and congenital malformations.

Published in:

2007

By:

Nikkilä, A.;
Källén, B.;
Maršál, K.;
Nikkilä, A;
Källén, B;
Marsál, K

Publication type:

journal article

First-trimester ultrasound and biochemical markers of aneuploidy and the prediction of impending fetal death.

Published in:

Ultrasound in Obstetrics & Gynecology, 2006, v. 28, n. 5, p. 637, doi. 10.1002/uog.3809

By:

Spencer, K.;
Cowans, N. J.;
Avgidou, K.;
Nicolaides, K. H.

Publication type:

Article

Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype.

Published in:

Ultrasound in Obstetrics & Gynecology, 2005, v. 26, n. 2, p. 154, doi. 10.1002/uog.1936

By:

Atzei, A.;
Gajewska, K.;
Huggon, I. C.;
Allan, L.;
Nicolaides, K. H.

Publication type:

Article

Picture of the Month: Prenatal sonographic appearance of cryptophthalmos in Fraser syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2005, v. 25, n. 6, p. 629, doi. 10.1002/uog.1905

By:

Vijayaraghavan, S. B.;
Suma, N.;
Lata, S.;
Kamakshi, K.

Publication type:

Article

Prenatal diagnosis of horseshoe kidney by measurement of the renal pelvic angle.

Published in:

Ultrasound in Obstetrics & Gynecology, 2005, v. 25, n. 6, p. 554, doi. 10.1002/uog.1904

By:

Cho, J. Y.;
Lee, Y.-H.;
Toi, A.;
MacDonald, B.

Publication type:

Article

Screening for Down syndrome based on maternal age or fetal nuchal translucency: a randomized controlled trial in 39572 pregnancies.

Published in:

Ultrasound in Obstetrics & Gynecology, 2005, v. 25, n. 6, p. 537, doi. 10.1002/uog.1917

By:

Saltvedt, S.;
Almström, H.;
Kublickas, M.;
Valentin, L.;
Bottinga, R.;
Bui, T.-H.;
Cederholm, M.;
Conner, P.;
Dannberg, B.;
Malcus, P.;
Marsk, A.;
Grunewald, C.

Publication type:

Article

All five digits of the hands of fetuses with Down syndrome are short.

Published in:

Ultrasound in Obstetrics & Gynecology, 2004, v. 23, n. 6, p. 557, doi. 10.1002/uog.1074

By:

Maymon, R.;
Tovbin, Y.;
Dreazen, E.;
Weinraub, Z.;
Herman, A.

Publication type:

Article

Trisomy 21 in the mid trimester: sonographic phenotyping of the fetus is the key.

Published in:

2004

By:

Hansmann, M.

Publication type:

Editorial

Measurement of nasal bone length at 11-14 weeks of pregnancy and its potential role in Down syndrome risk assessment.

Published in:

Ultrasound in Obstetrics & Gynecology, 2003, v. 22, n. 1, p. 36, doi. 10.1002/uog.167

By:

Orlandi, F.;
Bilardo, C.M.;
Campogrande, M.;
Krantz, D.;
Hallahan, T.;
Rossi, C.;
Viora, E.

Publication type:

Article

Absent nasal bone at 11-14 weeks of gestation and chromosomal defects.

Published in:

Ultrasound in Obstetrics & Gynecology, 2003, v. 22, n. 1, p. 31, doi. 10.1002/uog.170

By:

Cicero, S.;
Longo, D.;
Rembouskos, G.;
Sacchini, C.;
Nicolaides, K.H.

Publication type:

Article

Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements.

Published in:

Ultrasound in Obstetrics & Gynecology, 2003, v. 21, n. 6, p. 609, doi. 10.1002/uog.112

By:

Souter, V. L.;
Glass, I. A.;
Chapman, D. B.;
Raff, M. L.;
Parisi, M. A.;
Opheim, K. E.;
Disteche, C. M.

Publication type:

Article

Prenatal diagnosis of de novo mosaic distal 18q deletion associated with congenital anomalies.

Published in:

Ultrasound in Obstetrics & Gynecology, 2003, v. 21, n. 2, p. 202, doi. 10.1002/uog.45

By:

Chen, C.-P.;
Tzen, C.-Y.;
Chang, T.-Y.;
Lin, C.-J.;
Wang, W.;
Lee, C.-C.;
Chen, L.-F.;
Chen, W.-L.

Publication type:

Article

Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects.

Published in:

Ultrasound in Obstetrics & Gynecology, 2002, v. 20, n. 6, p. 546, doi. 10.1046/j.1469-0705.2002.00864.x

By:

Chaoui, R.;
Kalache, K. D.;
Heling, K. S.;
Tennstedt, C.;
Bommer, C.;
Körner, H.

Publication type:

Article

Letters to the Editor.

Published in:

Ultrasound in Obstetrics & Gynecology, 2001, v. 17, n. 6, p. 543, doi. 10.1046/j.1469-0705.2001.00426-2.x

By:

Ojha, K.;
Sladkevicius, P.;
Parikh, B.;
Moscoso, G.;
Nargund, G.

Publication type:

Article

Differential expression of lymphocyte function-associated antigen (LFA--1) on peripheral blood leucocytes from individuals with Down's syndrome.

Published in:

Clinical & Experimental Immunology, 1992, v. 88, n. 1, p. 41

By:

Barrena, M. J.;
Echaniz, P.;
Grarcia-Serrano, C.;
Zubillaga, P.;
Cuadrado, E.

Publication type:

Article

Increased activity of oligo-2',5'-adenylate synthetase in Down's syndrome and epilepsy.

Published in:

Clinical & Experimental Immunology, 1987, v. 68, n. 1, p. 168

By:

Fujii, N.;
Oguma, K.;
Fujii, M.;
Fukatsu, R.;
Takahata, N.;
Kitabatake, M.

Publication type:

Article

Immunological and purine enzyme studies on hyperuricaemic and normouricaemic patients with Down's syndrome.

Published in:

Clinical & Experimental Immunology, 1979, v. 36, n. 3, p. 355

By:

Watts, R. W. E.;
Perera, Y. S.;
Allsop, J.;
Newton, C.;
Platts-Mills, T. A. E.;
Webster, A. D. B.

Publication type:

Article

Immunodeficiency in Down's syndrome: T--lymphocyte subset imbalance in trisomic children.

Published in:

Clinical & Experimental Immunology, 1978, v. 33, n. 2, p. 298

By:

Burgio, G. R.;
Lanzavecchia, A.;
MacCarlo, Rita;
Vitiello, Antonella;
Plebani, A.;
Ugazio, A. G.

Publication type:

Article

Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development.

Published in:

Psychopharmacology, 2014, v. 231, n. 6, p. 1217, doi. 10.1007/s00213-013-3330-3

By:

Pop, Andreea;
Gomez-Mancilla, Baltazar;
Neri, Giovanni;
Willemsen, Rob;
Gasparini, Fabrizio

Publication type:

Article

Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant.

Published in:

Psychopharmacology, 2014, v. 231, n. 6, p. 1227, doi. 10.1007/s00213-012-2947-y

By:

Pop, Andreea;
Levenga, Josien;
Esch, Celine;
Buijsen, Ronald;
Nieuwenhuizen, Ingeborg;
Li, Tracy;
Isaacs, Aaron;
Gasparini, Fabrizio;
Oostra, Ben;
Willemsen, Rob

Publication type:

Article

An Exploration of Issues around Menstruation for Women with Down Syndrome and their Carers.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2008, v. 21, n. 3, p. 257, doi. 10.1111/j.1468-3148.2007.00406.x

By:

Mason, Linda;
Cunningham, Cliff

Publication type:

Article

Evaluation of Brief Group-Administered Instruction for Parents to Prevent or Minimize Sleep Problems in Young Children with Down Syndrome.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2004, v. 17, n. 2, p. 61, doi. 10.1111/j.1360-2322.2004.00174.x

By:

Stores, Rebecca;
Stores, Gregory

Publication type:

Article

Views and experiences of parents and siblings of adults with Down Syndrome regarding oral healthcare: a qualitative and quantitative study.

Published in:

British Dental Journal, 2005, v. 198, n. 9, p. 571, doi. 10.1038/sj.bdj.4812305

By:

Kaye, P. L.;
Fiske, J.;
Bower, E. J.;
Newton, J. T.;
Fenlon, M.

Publication type:

Article

Oral healthcare for adults with Down Syndrome.

Published in:

British Dental Journal, 2005, v. 198, n. 9, p. 559, doi. 10.1038/sj.bdj.4812310

By:

Brookes, Vanita

Publication type:

Article

Nondisjunction in trisomy 21: Origin and mechanisms.

Published in:

Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 199, doi. 10.1159/000056844

By:

Petersen, M. B.;
Mikkelsen, M.

Publication type:

Article

Discrepancies in cytogenetic results between different tissues in two fetuses with Wolf- Hirschhorn syndrome.

Published in:

Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 231, doi. 10.1159/000056850

By:

Schinzel, A.

Publication type:

Article

Abstracts of the 35th American Cytogenetics Conference.

Published in:: Cytogenetics & Cell Genetics, 1998, v. 82, n. 1/2, p. 131, doi. 10.1159/000015087
Publication type:: Article

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.

Published in:

Cytogenetics & Cell Genetics, 1998, v. 81, n. 3/4, p. 222, doi. 10.1159/000015035

By:

McTaggart, K. E.;
Budarf, M. L.;
Driscoll, D. A.;
Emanuel, B. S.;
Ferreira, P.;
MeDermid, H. E.

Publication type:

Article

Maternal Age and Down's Syndrome.

Published in:

Clinical Pediatrics, 1975, v. 14, n. 3, p. 241, doi. 10.1177/000992287501400311

By:

Shiono, Hiroshi;
Kadowaki, Junichi;
Nakao, Tooru

Publication type:

Article

Down's Syndrome and Neonatal Polycythemia.

Published in:

Clinical Pediatrics, 1973, v. 12, n. 10, p. 582

By:

McGaughey, H. R.

Publication type:

Article