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Rare deletions at the neurexin 3 locus in autism spectrum disorderALK alterations in adult renal cell carcinoma: frequency, clinicopathologic features and outcome in a large series of consecutively treated patientsMolecular cytogenetic analysis for TFE3 rearrangement in Xp11.2 renal cell carcinoma and alveolar soft part sarcoma: validation and clinical experience with 75 cases.Uterine cellular leiomyomata with chromosome 1p deletions represent a distinct entity.Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele.Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocksGenetic heterogeneity among uterine leiomyomata: insights into malignant progression.Expression profiling of uterine leiomyomata cytogenetic subgroups reveals distinct signatures in matched myometrium: transcriptional profilingof the t(12;14) and evidence in support of predisposing genetic heterogeneity.Molecular and cytogenetic characterization of plexiform leiomyomata provide further evidence for genetic heterogeneity underlying uterine fibroids.Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesityReciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.Identifying the molecular signature of the interstitial deletion 7q subgroup of uterine leiomyomata using a paired analysis.Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.Lysophosphatidic acid stimulates PC-3 prostate cancer cell Matrigel invasion through activation of RhoA and NF-kappaB activity.Molecular Cytogenetic Analysis of JAZF1, PHF1, and YWHAE in Endometrial Stromal Tumors: Discovery of Genetic Complexity by Fluorescence in Situ Hybridization.Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.JAZF1 rearrangement in a mesenchymal tumor of nonendometrial stromal origin: report of an unusual ossifying sarcoma of the heart demonstrating JAZF1/PHF1 fusion.The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray.Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.Analysis of MDM2 Amplification in 43 Endometrial Stromal Tumors: A Potential Diagnostic Pitfall.Recurrent duplications of 17q12 associated with variable phenotypes.Distinct ALK-rearranged and VCL-negative papillary renal cell carcinoma variant in two adults without sickle cell trait.Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms woRequirement of RhoA activity for increased nuclear factor kappaB activity and PC-3 human prostate cancer cell invasionIn-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange SyndromeArray CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: a skin biopsy should remain the diagnostic gold standardTFE3 rearrangements in adult renal cell carcinoma: clinical and pathologic features with outcome in a large series of consecutively treated patientsA cytogenetic analysis of 2 cases of phosphaturic mesenchymal tumor of mixed connective tissue typeResponse to Cobben et al. "Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of first choice"
P50
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P50
description
academic
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name
Jennelle C. Hodge
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type
label
Jennelle C. Hodge
@en
prefLabel
Jennelle C. Hodge
@en