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Genomic profiling reveals distinctive molecular relapse patterns in IDH1/2 wild-type glioblastoma.
- Published in:
- Genes, Chromosomes & Cancer, 2014, v. 53, n. 7, p. 589, doi. 10.1002/gcc.22169
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- Article
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
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- Human Genetics, 2002, v. 111, n. 1, p. 108, doi. 10.1007/s00439-002-0748-9
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- Article
Identification of genomic aberrations associated with shorter overall survival in patients with oligodendroglial tumors.
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- International Journal of Cancer, 2007, v. 120, n. 11, p. 2368, doi. 10.1002/ijc.22574
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- Article
Analysis of human meningiomas for aberrations of the MADH2, MADH4, APM-1 and DCC tumor suppressor genes on the long arm of chromosome 18.
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- International Journal of Cancer, 2001, v. 92, n. 4, p. 551, doi. 10.1002/ijc.1219
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- Article
Chromosomal imbalances associated with response to chemotherapy and cytotoxic cytokines in human malignant glioma cell lines.
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- International Journal of Cancer, 2001, v. 91, n. 2, p. 213, doi. 10.1002/1097-0215(200002)9999:9999<::AID-IJC1036>3.0.CO;2-M
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- Article
Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
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- Human Molecular Genetics, 2007, v. 16, n. 12, p. 1488, doi. 10.1093/hmg/ddm099
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- Article
Kongenitale Anomalien der Nieren und ableitenden Harnwege (CAKUT).
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- Medizinische Genetik, 2018, v. 30, n. 4, p. 448, doi. 10.1007/s11825-018-0226-y
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- Article
Comprehensive analysis of genomic alterations in gliosarcoma and its two tissue components.
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- Genes, Chromosomes & Cancer, 2002, v. 34, n. 4, p. 416, doi. 10.1002/gcc.10087
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- Publication type:
- Article
Retention of polysomy at 9p23-24 during karyotypic evolution in human breast cancer cell line COLO 824.
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- Genes, Chromosomes & Cancer, 1999, v. 24, n. 1, p. 87, doi. 10.1002/(SICI)1098-2264(199901)24:1<87::AID-GCC13>3.0.CO;2-5
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- Article
FOCAD loss impacts microtubule assembly, G2/M progression and patient survival in astrocytic gliomas.
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- Acta Neuropathologica, 2020, v. 139, n. 1, p. 175, doi. 10.1007/s00401-019-02067-z
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- Article
Rosetted glioneuronal tumor of the spine with overtly anaplastic histological features.
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- 2009
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- Publication type:
- Letter
Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 84, doi. 10.3390/genes13010084
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- Publication type:
- Article
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1302, doi. 10.1038/ejhg.2010.115
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- Article
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
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- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1592, doi. 10.1038/ejhg.2009.90
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- Publication type:
- Article
Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 35, doi. 10.1038/sj.ejhg.5201718
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- Article
A Novel Orphan G Protein-Coupled Receptor Primarily Expressed in the Brain Is Localized on Human Chromosomal Band 2q21.
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- Journal of Neurochemistry, 1998, v. 70, n. 4, p. 1357, doi. 10.1046/j.1471-4159.1998.70041357.x
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- Article
Autoradiographic Visualization of A<sub>1</sub> Adenosine Receptors in Rat Brain with [<sup>3</sup>H]8-Cyclopentyl-1,3-Dipropylxanthine.
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- Journal of Neurochemistry, 1990, v. 54, n. 4, p. 1344, doi. 10.1111/j.1471-4159.1990.tb01968.x
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- Article
CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).
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- Nephrology Dialysis Transplantation, 2012, v. 27, n. 6, p. 2355, doi. 10.1093/ndt/gfr649
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- Publication type:
- Article
Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.
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- Nephrology Dialysis Transplantation, 2011, v. 26, n. 1, p. 136, doi. 10.1093/ndt/gfq400
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- Article
A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics.
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- Journal of Neurology, 2022, v. 269, n. 9, p. 4863, doi. 10.1007/s00415-022-11126-7
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- Publication type:
- Article
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
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- Journal of Neurology, 2020, v. 267, n. 9, p. 2732, doi. 10.1007/s00415-020-09861-w
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- Publication type:
- Article
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
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- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01689-5
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- Publication type:
- Article
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2.
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- Human Genetics, 2023, v. 142, n. 1, p. 73, doi. 10.1007/s00439-022-02481-6
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- Publication type:
- Article
Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization.
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- BJU International, 2007, v. 100, n. 3, p. 646, doi. 10.1111/j.1464-410X.2007.07086.x
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- Article
A phenotype map for 14q32.3 terminal deletions.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 695, doi. 10.1002/ajmg.a.35256
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- Article
Comprehensive Characterization of Genomic Aberrations in Gangliogliomas by CGH, Array-based CGH and Interphase FISH.
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- Brain Pathology, 2008, v. 18, n. 3, p. 326, doi. 10.1111/j.1750-3639.2008.00122.x
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- Article
Allelic Gain and Amplification on the Long Arm of Chromosome 17 in Anaplastic Meningiomas.
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- Brain Pathology, 2002, v. 12, n. 2, p. 145, doi. 10.1111/j.1750-3639.2002.tb00429.x
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- Publication type:
- Article
Characteristic Chromosomal Imbalances in Primary Central Nervous System Lymphomas of the Diffuse Large B-Cell Type.
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- Brain Pathology, 2000, v. 10, n. 1, p. 73, doi. 10.1111/j.1750-3639.2000.tb00244.x
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- Article
Chordoid Glioma of the Third Ventricle: Immunohistochemical and Molecular Genetic Characterization of a Novel Tumor Entity.
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- Brain Pathology, 1999, v. 9, n. 4, p. 617, doi. 10.1111/j.1750-3639.1999.tb00543.x
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- Publication type:
- Article
Amplification and Expression of Cyclin D Genes ( CCND1 CCND2 and CCND3) in Human Malignant Gliomas.
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- Brain Pathology, 1999, v. 9, n. 3, p. 435, doi. 10.1111/j.1750-3639.1999.tb00532.x
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- Publication type:
- Article
Inflammation-like changes in the urothelium of Lifr-deficient mice and LIFR-haploinsufficient humans with urinary tract anomalies.
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- Human Molecular Genetics, 2020, v. 29, n. 7, p. 1192, doi. 10.1093/hmg/ddaa048
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- Article
Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.
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- Human Molecular Genetics, 2017, v. 26, n. 9, p. 1716, doi. 10.1093/hmg/ddx086
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- Article
Simultaneous subependymomas in monozygotic female twins: further evidence for a common genetic or developmental disorder background.
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- Journal of Neurosurgery, 2014, v. 121, n. 3, p. 570, doi. 10.3171/2014.2.JNS122179
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- Publication type:
- Article
MOLECULAR GENETIC DETERMINANTS OF LONG-TERM SURVIVAL WITH GLIOBLASTOMA.
- Published in:
- Neuro-Oncology, 2014, v. 16, n. suppl_3, p. iii46
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- Publication type:
- Article
Molecular characterization of long-term survivors of glioblastoma using genome- and transcriptome-wide profiling.
- Published in:
- International Journal of Cancer, 2014, v. 135, n. 8, p. 1822, doi. 10.1002/ijc.28836
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- Publication type:
- Article