Giuseppe Merla


Ontology type: schema:Person     


Person Info

NAME

Giuseppe

SURNAME

Merla

Publications in SciGraph latest 50 shown

  • 2021-07-07 Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature in EUROPEAN JOURNAL OF PEDIATRICS
  • 2020-12-11 Genetic mechanisms of critical illness in COVID-19 in NATURE
  • 2020-07-17 ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2020-07-08 Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2020-03-23 Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome in GENETICS IN MEDICINE
  • 2020-01-17 A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome in GENETICS IN MEDICINE
  • 2019-04-01 Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-07-09 Correction: MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences in LEUKEMIA
  • 2018-02-22 MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences in LEUKEMIA
  • 2017-11-28 MYC-containing amplicons in acute myeloid leukemia: Genomic structures, evolution, and transcriptional consequences in LEUKEMIA
  • 2016-10-24 The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks in ORPHANET JOURNAL OF RARE DISEASES
  • 2016-09-01 Identification of p53-target genes in Danio rerio in SCIENTIFIC REPORTS
  • 2016-01-15 Deregulated expression of cryptochrome genes in human colorectal cancer in MOLECULAR CANCER
  • 2015-06-16 TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival in BMC CANCER
  • 2014-12-24 The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-12-15 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages in NATURE GENETICS
  • 2014-11-13 MicroRNA expression profiling in male and female familial breast cancer in BRITISH JOURNAL OF CANCER
  • 2014-08-17 DPP6 gene disruption in a family with Gilles de la Tourette syndrome in NEUROGENETICS
  • 2014-04-11 Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • 2014-02-20 Expression of base excision repair key factors and miR17 in familial and sporadic breast cancer in CELL DEATH & DISEASE
  • 2014-01-28 Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene in BMC MEDICAL GENETICS
  • 2013-08-30 Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-06-12 Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012 The Tripartite Motif in TRIM/RBCC PROTEINS
  • 2011-08-31 Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus in NATURE
  • 2011-06-09 Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients in ORPHANET JOURNAL OF RARE DISEASES
  • 2011-04-19 Gene expression of somatostatin receptor subtypes SSTR2a, SSTR3 and SSTR5 in peripheral blood of neuroendocrine lung cancer affected patients in CELLULAR ONCOLOGY
  • 2010-09-02 Identification of tumor-associated cassette exons in human cancer through EST-based computational prediction and experimental validation in MOLECULAR CANCER
  • 2010-05-01 Copy number variants at Williams–Beuren syndrome 7q11.23 region in HUMAN GENETICS
  • 2009-10-21 Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-07-01 An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-03-03 Promoter methylation correlates with reduced NDRG2 expression in advanced colon tumour in BMC MEDICAL GENOMICS
  • 2008-04-09 Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-04-17 An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma in JOURNAL OF HUMAN GENETICS
  • 2002-03-28 Identification of additional transcripts in the Williams-Beuren syndrome critical region in HUMAN GENETICS
  • 2001-10-25 Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas–a possible mechanism for altering the nm23-H1 activity in ONCOGENE
  • 2000-07-05 Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? in ONCOGENE
  • 1999-12-08 Evidence for interaction between human PRUNE and nm23-H1 NDPKinase in ONCOGENE
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