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1. Full Text The Genetic Architecture of down Syndrome Phenotypes Revealed by High-Resolution Analysis of Human Segmental Trisomies
by Jan O. Korbel and Tal Tirosh-Wagner and Alexander Eckehart Urban and Xiao-Ning Chen and Maya Kasowski and Li Dal and Fabian Grubert and Chandra Erdman and Michael C. Gao and Ken Lange and Eric M. Sobel and Gillian M. Barlow and Arthur S. Aylsworth and Nancy J. Carpenter and Robin Dawn Clark and Monika Y. Cohen and Eric Doran and Tzipora Falik-Zaccai and Susan O. Lewin and Ira T. Lott and Barbara C. McGillivray and John B. Moeschler and Mark J. Pettenati and Slegfried M. Pueschel and Kathleen W. Raol and Lisa G. Shaffer and Mordechai Shohat and Alexander J. van Riper and Dorothy Warburton and Sherman Weissman and Mark B. Gerstein and Michael Snyder and Julie R. Korenberg and Joseph R. Ecker
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2009, Volume 106, Issue 29, pp. 12031 - 12036
Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put forward,... 
Phenotypes | Trisomy | Molecular genetics | Genes | Genomics | Medical genetics | Genomes | Down syndrome | Chromosomes | Human genetics | Genomic structural variation | Congenital heart disease | Human genome | Leukemia | Copy number variants | leukemia | ALZHEIMER-DISEASE | ABNORMALITIES | MULTIDISCIPLINARY SCIENCES | genomic structural variation | LOCUS | MAPS | COPY-NUMBER | CONGENITAL HEART-DISEASE | human genome | congenital heart disease | copy number variants | DUPLICATION | CHROMOSOME-21 | CRITICAL REGION | Meta-Analysis as Topic | Phenotype | Trisomy - genetics | Humans | Down Syndrome - genetics | Infant | Chromosome Mapping | Chromosomes, Human, Pair 21 - genetics | Genetic aspects | Health aspects | Congenital defects | Stenosis | Geographical variations | Mental retardation | Amyloid precursor protein | Myeloproliferative diseases | Hirschsprung's disease | Anus | Down's syndrome | Etiology | chromosome 21 | genomics | Gene mapping | Alzheimer's disease | Heart diseases | Hemorrhagic thrombocythemia | Biological Sciences
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2. Full Text Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation
by Friedman, J.M and Baross, Ágnes and Delaney, Allen D and Ally, Adrian and Arbour, Laura and Asano, Jennifer and Bailey, Dione K and Barber, Sarah and Birch, Patricia and Brown-John, Mabel and Cao, Manqiu and Chan, Susanna and Charest, David L and Farnoud, Noushin and Fernandes, Nicole and Flibotte, Stephane and Go, Anne and Gibson, William T and Holt, Robert A and Jones, Steven J.M and Kennedy, Giulia C and Krzywinski, Martin and Langlois, Sylvie and Li, Haiyan I and McGillivray, Barbara C and Nayar, Tarun and Pugh, Trevor J and Rajcan-Separovic, Evica and Schein, Jacqueline E and Schnerch, Angelique and Siddiqui, Asim and Van Allen, Margot I and Wilson, Gary and Yong, Siu-Li and Zahir, Farah and Eydoux, Patrice and Marra, Marco A
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 79, Issue 3, pp. 500 - 513
The cause of mental retardation in one-third to one-half of all affected individuals is unknown. Microscopically detectable chromosomal abnormalities are the... 
INDIVIDUALS | MULTIPLE CONGENITAL-ANOMALIES | COPY-NUMBER | CGH | GENETICS & HEREDITY | GENOTYPING ARRAYS | UNIPARENTAL DISOMY | CHROMOSOMAL-ABNORMALITIES | REARRANGEMENTS | NUCLEOTIDE-POLYMORPHISM ARRAYS | STRUCTURAL VARIATION | Sequence Deletion | Oligonucleotide Array Sequence Analysis | Humans | Intellectual Disability - diagnosis | Chromosome Aberrations | Gene Dosage | Genome, Human | Child | Cytogenetics | Chromosome mapping | DNA microarrays | Research | Mental retardation
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3. Full Text Redefining the Etiologic Landscape of Cerebellar Malformations
by Aldinger, Kimberly A and Timms, Andrew E and Thomson, Zachary and Mirzaa, Ghayda M and Bennett, James T and Rosenberg, Alexander B and Roco, Charles M and Hirano, Matthew and Abidi, Fatima and Haldipur, Parthiv and Cheng, Chi V and Collins, Sarah and Park, Kaylee and Zeiger, Jordan and Overmann, Lynne M and Alkuraya, Fowzan S and Biesecker, Leslie G and Braddock, Stephen R and Cathey, Sara and Cho, Megan T and Chung, Brian H.Y and Everman, David B and Zarate, Yuri A and Jones, Julie R and Schwartz, Charles E and Goldstein, Amy and Hopkin, Robert J and Krantz, Ian D and Ladda, Roger L and Leppig, Kathleen A and McGillivray, Barbara C and Sell, Susan and Wusik, Katherine and Gleeson, Joseph G and Nickerson, Deborah A and Bamshad, Michael J and Gerrelli, Dianne and Lisgo, Steven N and Seelig, Georg and Ishak, Gisele E and Barkovich, A. James and Curry, Cynthia J and Glass, Ian A and Millen, Kathleen J and Doherty, Dan and Dobyns, William B
The American Journal of Human Genetics, ISSN 0002-9297, 09/2019, Volume 105, Issue 3, pp. 606 - 615
Cerebellar malformations are diverse congenital anomalies frequently associated with developmental disability. Although genetic and prenatal non-genetic causes... 
epilepsy | heterotopia | Dandy-Walker malformation | twins | cerebellar hypoplasia | exome | genes | autism | cerebellum | intellectual disability | DANDY-WALKER MALFORMATION | HEMORRHAGE | HETEROTOPIA | MUTATION | GENETICS & HEREDITY | Development and progression | Prognosis | Research | Risk factors | Brain diseases
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4. Full Text Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region
by Strehle, Eugen‐Matthias and Yu, Linbo and Rosenfeld, Jill A and Donkervoort, Sandra and Zhou, Yulin and Chen, Tian‐Jian and Martinez, Jose E and Fan, Yao‐Shan and Barbouth, Deborah and Zhu, Hongbo and Vaglio, Alicia and Smith, Rosemarie and Stevens, Cathy A and Curry, Cynthia J and Ladda, Roger L and Fan, Zheng (Jane) and Fox, Joyce E and Martin, Judith A and Abdel‐Hamid, Hoda Z and McCracken, Elizabeth A and McGillivray, Barbara C and Masser‐Frye, Diane and Huang, Taosheng
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2012, Volume 158A, Issue 9, pp. 2139 - 2151
Chromosome 4q deletion syndrome (4q‐ syndrome) is a rare condition, with an estimated incidence of 1 in 100,000. Although variable, the clinical spectrum... 
4q deletion syndrome | genotype–phenotype correlation | molecular genetic analysis | fluorescent in situ hybridization | comparative genomic hybridization | Fluorescent in situ hybridization | Genotype-phenotype correlation | Molecular genetic analysis | Comparative genomic hybridization | MICRODELETION | TARGET | ABNORMALITIES | genotype-phenotype correlation | BLOOD-PRESSURE | LONG ARM | REARRANGEMENT | GENE | MUTATION | GENETICS & HEREDITY | PATIENT | EXPRESSION | Chromosome Deletion | Phenotype | Comparative Genomic Hybridization | Humans | Female | Genotype | In Situ Hybridization, Fluorescence | Infant | Chromosomes, Human, Pair 4 | Syndrome | Medical colleges | Genetic disorders | Genes | Congenital heart disease | Anopheles | Pregnant women | Analysis | Medical genetics | Genetic research | Cytogenetics | Bone morphogenetic proteins | Fibroblast growth factors | Genetic aspects | Bone morphogenetic protein 3
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5. Full Text Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
by Menten, Björn and Buysse, Karen and Zahir, Farah and Hellemans, Jan and Hamilton, Sara J and Costa, Teresa and Fagerstrom, Carrie and Anadiotis, George and Kingsbury, Daniel and McGillivray, Barbara C and Marra, Marco A and Friedman, Jan M and Speleman, Frank and Mortier, Geert
Journal of Medical Genetics, ISSN 0022-2593, 04/2007, Volume 44, Issue 4, pp. 264 - 268
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild... 
GRIP1 | GENE | LIPOMAS | ARRAY-CGH | GENETICS & HEREDITY | FACTOR HMGI-C | COMPARATIVE GENOMIC HYBRIDIZATION | MESENCHYMAL TUMORS | REARRANGEMENTS | PROTEINS | PULMONARY CHONDROID HAMARTOMAS | Sequence Deletion | Scoliosis - genetics | Oligonucleotide Array Sequence Analysis | Humans | Failure to Thrive - etiology | Infant | Male | HMGA2 Protein - physiology | Intellectual Disability - genetics | Chromosomes, Human, Pair 12 - ultrastructure | Membrane Proteins - deficiency | Nuclear Proteins - deficiency | Chromosomes, Artificial, Bacterial | HMGA2 Protein - genetics | Adult | Female | Nuclear Proteins - genetics | Chromosomes, Human, Pair 12 - genetics | Abnormalities, Multiple - genetics | Chromosome Breakage | Infant, Newborn | Carrier Proteins - physiology | Chromosome Deletion | Infant, Low Birth Weight | Chromosome Disorders - pathology | Nerve Tissue Proteins - physiology | Membrane Proteins - genetics | Chromosome Mapping | Nerve Tissue Proteins - genetics | Syndrome | Carrier Proteins - genetics | Dwarfism - genetics | Osteopoikilosis - genetics | Phenotype | Heterozygote | Learning Disorders - genetics | Chromosome Disorders - genetics | Case studies | Musculoskeletal diseases | Chromosome deletion | Genetic aspects | Stature, Short | Mental retardation | Pregnancy | Hypertension | Genotype & phenotype | Scoliosis | Intellectual disabilities | Growth hormones | Gene expression | Patients | Age | Tumors | mental retardation | short stature | HMGA2 | Short Report | osteopoikilosis
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6. Full Text Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
by Friedman, JM and Adam, Shelin and Arbour, Laura and Armstrong, Linlea and Baross, Agnes and Birch, Patricia and Boerkoel, Cornelius and Chan, Susanna and Chai, David and Delaney, Allen D and Flibotte, Stephane and Gibson, William T and Langlois, Sylvie and Lemyre, Emmanuelle and Li, H Irene and MacLeod, Patrick and Mathers, Joan and Michaud, Jacques L and McGillivray, Barbara C and Patel, Millan S and Qian, Hong and Rouleau, Guy A and Van Allen, Margot I and Yong, Siu-Li and Zahir, Farah R and Eydoux, Patrice and Marra, Marco A
BMC Genomics, ISSN 1471-2164, 11/2009, Volume 10, Issue 1, pp. 526 - 526
Background: Array genomic hybridization is being used clinically to detect pathogenic copy number variants in children with intellectual disability and other... 
GENOTYPE-PHENOTYPE CORRELATION | CYTOGENETIC ABNORMALITIES | GLOBAL DEVELOPMENTAL DELAY | WHOLE-GENOME | MENTAL-RETARDATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | MICRODELETION SYNDROME | STRUCTURAL VARIATION | MICROARRAY ANALYSIS | OLIGONUCLEOTIDE MICROARRAY | MOLECULAR DELINEATION | Gene Dosage - genetics | Nucleic Acid Hybridization | Oligonucleotide Array Sequence Analysis | Humans | Child, Preschool | Infant | Male | Intellectual Disability - genetics | Young Adult | Adolescent | Female | Polymorphism, Single Nucleotide | Child | Usage | DNA microarrays | Nucleic acid hybridization | Child development deviations | Genetic aspects | Research | Single nucleotide polymorphisms | Developmental disabilities | Studies | Womens health | Genetics | Genomes | Hybridization | Artificial chromosomes | Arrays | Manuscripts | Children & youth
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7. Full Text The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height
by Buysse, Karen and Reardon, William and Mehta, Lakshmi and Costa, Teresa and Fagerstrom, Carrie and Kingsbury, Daniel J and Anadiotis, George and McGillivray, Barbara C and Hellemans, Jan and de Leeuw, Nicole and de Vries, Bert B.A and Speleman, Frank and Menten, Björn and Mortier, Geert
European Journal of Medical Genetics, ISSN 1769-7212, 2009, Volume 52, Issue 2, pp. 101 - 107
Abstract Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and... 
Medical Education | Osteopoikilosis | Short stature | HMGA2 | LEMD3 | Mental retardation | 12q14 Microdeletion syndrome | Buschke–Ollendorff | Buschke-Ollendorff | STATURE | MENTAL-RETARDATION | PHENOTYPE | MELORHEOSTOSIS | OF-FUNCTION MUTATIONS | ADULT | GENETICS & HEREDITY | BUSCHKE-OLLENDORFF-SYNDROME | PROTEINS | EXPRESSION | Chromosome Deletion | Humans | Child, Preschool | Male | Body Height - genetics | Syndrome | Phenotype | Gene Deletion | Adolescent | HMGA2 Protein - genetics | Female | Chromosomes, Human, Pair 12 | Growth Disorders - genetics | Child | Chromosome Disorders - genetics | Learning disabilities | Chromosomal proteins | Children's hospitals | Medical genetics
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8. Full Text Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
by du Souich, Christèle and Chou, Athena and Yin, Jingyi and Oh, Tracey and Nelson, Tanya N and Hurlburt, Jane and Arbour, Laura and Friedlander, Robin and McGillivray, Barbara C and Tyshchenko, Nataliya and Rump, Andreas and Poskitt, Kenneth J and Demos, Michelle K and Van Allen, Margot I and Boerkoel, Cornelius F
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2009, Volume 149A, Issue 11, pp. 2469 - 2478
X‐linked mental retardation (XLMR) affects 1–2/1,000 males and accounts for ∼10% of all mental retardation (MR). We have ascertained a syndromic form of XLMR... 
cortical dysplasia | behavioral symptoms | developmental abnormalities | asthenic build | X chromosome | Cortical dysplasia | Behavioral symptoms | Asthenic build | Developmental abnormalities | DIAGNOSIS | FG-SYNDROME | FORM | PREVALENCE | FAMILY | LUJAN-FRYNS-SYNDROME | GENETICS | MUTATION | GENETICS & HEREDITY | MARFANOID HABITUS | Body Constitution | Microcephaly - complications | Mental Retardation, X-Linked - complications | Microcephaly - genetics | Humans | Middle Aged | Child, Preschool | Infant | Male | Hand - diagnostic imaging | Pregnancy | Radiography | Magnetic Resonance Imaging | Mental Retardation, X-Linked - genetics | Pedigree | Adolescent | Facies | Fatal Outcome | Adult | Female | Cerebral Cortex - abnormalities | Child | Infant, Newborn
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9. Full Text Unusual segregation products in sperm from a pericentric inversion 17 heterozygote
by Mikhaail-Philips, Monica M and McGillivray, Barbara C and Hamilton, Sara J and Ko, Evelyn and Chernos, Judy and Rademaker, Alfred and Martin, Renée H
Human Genetics, ISSN 0340-6717, 8/2005, Volume 117, Issue 4, pp. 357 - 365
Chromosome segregation and interchromosomal effect were studied in spermatozoa from a carrier of a pericentric chromosome 17 inversion,... 
LifeSciences | NUCLEI | FISH TECHNIQUE | PARACENTRIC INVERSION | CHROMOSOME ANALYSIS | GENETICS & HEREDITY | IN-SITU HYBRIDIZATION | RECIPROCAL TRANSLOCATION | HUMAN MALE CARRIER | PERICENTRIC-INVERSION | SYNAPTONEMAL COMPLEXES | REDUCED RECOMBINATION | Humans | Middle Aged | Adult | Aneuploidy | In Situ Hybridization, Fluorescence | Male | Lymphocytes - cytology | Spermatozoa - cytology | Chromosomes, Human, Pair 17 - genetics | Chromosome Inversion - genetics | Chromosome Segregation - genetics
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10. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
by Jan O Korbel and Tal Tirosh-Wagner and Alexander Eckehart Urban and Xiao-Ning Chen and Maya Kasowski and Li Dai and Fabian Grubert and Chandra Erdman and Michael C Gao and Ken Lange and Eric M Sobel and Gillian M Barlow and Arthur S Aylsworth and Nancy J Carpenter and Robin Dawn Clark and Monika Y Cohen and Eric Doran and Tzipora Falik-Zaccai and Susan O Lewin and Ira T Lott and Barbara C McGillivray and John B Moeschler and Mark J Pettenati and Siegfried M Pueschel and Kathleen W Rao and Lisa G Shaffer and Mordechai Shohat and Alexander J Van Riper and Dorothy Warburton and Sherman Weissman and Mark B Gerstein and Michael Snyder and Julie R Korenberg
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 07/2009, Volume 106, Issue 29, p. 12031
  Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put... 
Genotype & phenotype | Hypotheses | Genes | Genomics | Down syndrome | Chromosomes
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11. Full Text Pregnancy With Uterine Vascular Malformations Associated With Hemorrhagic Hereditary Telangiectasia: A Case Report
by Dahlgren, Leanne S and Effer, Sidney B and McGillivray, Barbara C and Pugash, Denise J
Journal of Obstetrics and Gynaecology Canada, ISSN 1701-2163, 08/2006, Volume 28, Issue 8, pp. 720 - 723
Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant condition. It is rarely seen in pregnancy and even more rarely has uterine... 
Osler-Weber-Rendu disease | uterus | Hereditary hemorrhagic telangiectasia | arteriovenous malformations | pregnancy | Pregnancy | Arteriovenous malformations | Uterus | Cesarean Section | Humans | Adult | Female | Pregnancy Complications, Cardiovascular - genetics | Uterus - blood supply | Pregnancy Outcome | Telangiectasia, Hereditary Hemorrhagic - complications
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12. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
by Menten, Bjoern and Buysse, Karen and Zahir, Farah and Hellemans, Jan and Hamilton, Sara J and Costa, Teresa and Fagerstrom, Carrie and Anadiotis, George and Kingsbury, Daniel and McGillivray, Barbara C and Marra, Marco A and Friedman, Jan M and Speleman, Frank and Mortier, Geert
Journal of Medical Genetics, ISSN 0022-2593, 04/2007, Volume 44, Issue 4, pp. 264 - 268
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild... 
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13. Full Text Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome
by Drumheller, T and McGillivray, B C and Behrner, D and MacLeod, P and McFadden, D E and Roberson, J and Venditti, C and Chorney, K and Chorney, M and Smith, D I
Journal of Medical Genetics, ISSN 0022-2593, 10/1996, Volume 33, Issue 10, pp. 842 - 847
In patients with the 3p-syndrome, hemizygous deletion of 3p25-pter is associated with profound growth failure, characteristic facial features, and mental... 
3p- syndrome | 3p25 breakpoints | DELINEATION | LINDAU DISEASE GENE | SHORT ARM | CHROMOSOME-3 | 3P25-PTER | PARTIAL DELETION | GENETICS & HEREDITY | Chromosomes, Human, Pair 3 | Face - abnormalities | Humans | Female | In Situ Hybridization, Fluorescence | Male | Growth Disorders - genetics | Abnormalities, Multiple - genetics | Cell Line, Transformed | Intellectual Disability - genetics
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14. Full Text PARTIAL TRISOMY CHROMOSOME 5 COSEGREGATING WITH SCHIZOPHRENIA
by Bassett, AnneS and Jones, BarryD and McGillivray, BarbaraC and Pantzar, J.Tapio
The Lancet, ISSN 0140-6736, 1988, Volume 331, Issue 8589, pp. 799 - 801
Schizophrenia was associated with a distinct autosomal abnormality in two related mildly dysmorphic individuals. The finding of cosegregation of schizophrenia... 
Genetics | Mental health
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15. Full Text Anterior segment dysgenesis and congenital glaucoma associated with partial trisomy of chromosome 1 (1q32-qter)
by Broadway, David C and Lyons, Christopher J and McGillivray, Barbara C
Journal of AAPOS, ISSN 1091-8531, 1998, Volume 2, Issue 3, pp. 188 - 190
A child born with partial trisomy of chromosome 1 (1q32-qter) survived and was seen for anterior segment dysgenesis and congenital glaucoma. Pure trisomy 1q is... 
Trisomy | Chromosomes, Human, Pair 1 | Glaucoma, Open-Angle - genetics