about
The genes encoding the glutamate receptor subunits KA1 and KA2 (GRIK4 and GRIK5) are located on separate chromosomes in human, mouse, and ratMapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12The active gene that encodes human high mobility group 1 protein (HMG1) contains introns and maps to chromosome 13Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 geneSNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case.Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controlsThe Ste locus, a component of the parasitic cry-Ste system of Drosophila melanogaster, encodes a protein that forms crystals in primary spermatocytes and mimics properties of the beta subunit of casein kinase 2.Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed child.Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotypeConstitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumorsPrenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromesMolecular cytogenetic dissection of human chromosomes 3 and 21 evolutionMisbehaviour of XIST RNA in breast cancer cells.Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.The ZNF75 zinc finger gene subfamily: isolation and mapping of the four members in humans and great apes.Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.Fluorescence in situ hybridization dissection of a chronic myeloid leukemia case bearing the apparently balanced translocations (9;22)(q34;q11.2) and (11;11)(p15;q13).The evolutionary history of human chromosome 7.Comparative fluorescence in situ hybridization mapping of primate chromosomes with Alu polymerase chain reaction generated probes from human/rodent somatic cell hybrids.Characterization of chimpanzee-hamster hybrids by chromosome painting.Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis.From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Molecular analysis of 11q13 breakpoints in multiple myeloma.Fetal cell microchimerism: a protective role in autoimmune thyroid diseases.ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization.EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias.Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
P50
Q24564558-266297F7-61E4-4AE4-A242-74A1E812CF73Q28240741-CAD88EE9-961D-4360-B4E1-9C99A9390D74Q28281444-74D2249F-6271-45D9-BB82-F9411E3BF273Q33715820-24E57778-3879-4848-A7B4-A60B361DBCE3Q33845402-6075E3D1-25CA-4B90-A470-A06EAC4C119FQ33890605-D80FA27C-AC62-487D-9BC7-3E56CE9D6271Q34043543-2192FD4F-F67A-4409-AA4D-9A3AA342A2C7Q34084279-BC5BCFB7-D0C7-4086-876F-F3F5B469FE1BQ34182347-14FE4DAC-09F2-44CD-BFF2-B4ADEC28B279Q34336785-6C6AB719-4B40-4D34-B6CF-43B9D580DC3CQ34646686-ED573758-1F06-41B1-B03D-C4EBF6A2F044Q35248496-F0FB387A-8085-4F63-9D6F-6A60BA1C7751Q35726325-6885A145-9259-4AAC-BA9B-9BF6F93DBB03Q36035735-F123AAC1-4457-4CFF-ACB9-64681508B174Q36092389-5191D6AE-D0C2-494F-9893-46A57278908FQ36181243-39F85261-1F98-44B9-B5C4-A95D27341E17Q36472665-4A861914-9018-4B31-B480-7DF7C2111BF0Q36634304-3771571C-7D1E-4D9E-8BDF-8B7028F42A52Q37147025-16E0E5B2-17F9-43A3-B930-B01F76520762Q37184717-CAE99C3C-224F-41EB-97CE-FC1748A98539Q37495369-793B93FD-C8B9-41BE-8CF5-E93E295B3C4AQ37802471-0A9170A6-0E06-4A2F-AC24-71218D776AA9Q38355396-4C6E34B1-3C6B-4536-915C-97A95BFB4A43Q38451703-7B825569-224D-4802-8D89-A8EA2791E70CQ38452917-78867112-4CF1-4927-B487-8E41EDA1A5AEQ38476859-C1DC7757-C587-48E1-88DF-AC23809EC2CBQ38507974-C600612A-AF69-4907-BC6E-76676367CE36Q38510383-2911EA64-6A1B-4098-B2EA-44D0599B2A9BQ39004828-703B043B-0DAE-45AD-B8D0-9BEE8403F765Q40408740-09DACD1C-A0A8-4147-8847-8AF9F54DE48DQ40974872-910B0221-98E2-48BF-9893-013E33248CD5Q41009244-4913EADC-1EC0-403E-BCD5-0FEC2390264DQ41551376-98C10E86-817E-405A-9D54-CFF955ECB193Q42628207-28BB39DB-E692-4F8C-80AE-DE0B4E85500AQ42684876-B57141E5-B232-41E0-AE9A-4107297D6BD5Q42868160-17A11429-D747-4C3A-8BB4-23A02B95FDD7Q42917226-3734DC88-E192-4EF4-A7AD-0C51B9988F5CQ43073620-3D1EC0C1-5C7E-4F81-8975-D947E9649D24Q43172125-4826332D-3D0D-4BE3-A8A0-6D9B4AC980DCQ43232496-2304A11B-D788-4E33-A4B0-CD64DC19E068
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Palma Finelli
@ast
Palma Finelli
@en
Palma Finelli
@es
Palma Finelli
@nl
Palma Finelli
@sl
type
label
Palma Finelli
@ast
Palma Finelli
@en
Palma Finelli
@es
Palma Finelli
@nl
Palma Finelli
@sl
prefLabel
Palma Finelli
@ast
Palma Finelli
@en
Palma Finelli
@es
Palma Finelli
@nl
Palma Finelli
@sl
P1053
A-3578-2016
P106
P1153
7005294615
P31
P3829
P496
0000-0001-8464-6906