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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
Journal Article
Journal Article
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
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2012, Volume 158A, Issue 9, pp. 2139 - 2151
Journal Article
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
Journal Article
BMC Genomics, ISSN 1471-2164, 11/2009, Volume 10, Issue 1, pp. 526 - 526
Journal Article
Journal Article
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
Journal Article
Journal of Obstetrics and Gynaecology Canada, ISSN 1701-2163, 08/2006, Volume 28, Issue 8, pp. 720 - 723
Journal Article
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... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/1996, Volume 33, Issue 10, pp. 842 - 847
Journal Article
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
Journal Article
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