D. Rogaia

发表

The acute promyelocytic leukemia-specific PML/RAR alpha fusion protein reduces the frequency of commitment to apoptosis upon growth factor deprivation of GM-CSF-dependent myeloid cells.

P. Pelicci, I. Nicoletti, F. Grignani, 1995, Leukemia.

Effectiveness of Donor Natural Killer Cell Alloreactivity in Mismatched Hematopoietic Transplants

Katia Perruccio, Francesco Frassoni, A. Tosti, 2002, Science.

Terminal megakaryocytic differentiation of TF-1 cells is induced by phorbol esters and thrombopoietin and is blocked by expression of PML/RARα fusion protein

C. Peschle, G. Mariani, U. Testa, 1998, Leukemia.

Effects on differentiation by the promyelocytic leukemia PML/RARalpha protein depend on the fusion of the PML protein dimerization and RARalpha DNA binding domains.

C. Peschle, J. Seeler, M. Fagioli, 1996, The EMBO journal.

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly

D. Toccaceli, P. Prontera, E. Donti, 2014, American journal of medical genetics. Part A.

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

G. Merla, A. Mencarelli, P. Prontera, 2017, International journal of molecular sciences.

Formation of PML/RARα high molecular weight nuclear complexes through the PML coiled-coil region is essential for the PML/RARα-mediated retinoic acid response

D. Bonci, P. Pelicci, F. Grignani, 1999, Oncogene.

DPP6 gene disruption in a family with Gilles de la Tourette syndrome

A. Cavanna, V. Napolioni, G. Merla, 2014, neurogenetics.

2q31.2q32.3 deletion syndrome: Report of an adult patient

B. Dallapiccola, L. Bernardini, A. Novelli, 2009, American journal of medical genetics. Part A.

The localization of the HRX/ALL1 protein to specific nuclear subdomains is altered by fusion with its eps15 translocation partner.

C. Croce, P. Pelicci, T. Nakamura, 1997, Cancer research.

Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?

A. Mencarelli, P. Prontera, E. Donti, 2013, Molecular Syndromology.

A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications.

B. Pasini, A. Mencarelli, P. Prontera, 2008, Genetic counseling.

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

G. Merla, A. Mencarelli, P. Prontera, 2019, European Journal of Human Genetics.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

DPP6 gene disruption in a family with Gilles de la Tourette syndrome

A. Cavanna, V. Napolioni, G. Merla, 2014, neurogenetics.

Acute promyelocytic leukaemia cells resistant to retinoic acid show further perturbation of the RAR alpha signal transduction system.

C. Gambacorti-Passerini, F. Grignani, E. Marchesi, 1995, Leukemia & lymphoma.

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype

M. Digilio, C. Leoni, A. Novelli, 2021, American journal of medical genetics. Part A.

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3

A. Bruselles, M. Tartaglia, G. Merla, 2021, Genes.

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

G. Merla, A. Mencarelli, B. Sadikovic, 2021, International journal of molecular sciences.

Deletion 2p15–16.1 syndrome: Case report and review

B. Dallapiccola, L. Bernardini, P. Prontera, 2011, American journal of medical genetics. Part A.

A novel MED12 mutation: Evidence for a fourth phenotype

A. V. Vulto-van Silfhout, G. Merla, A. Mencarelli, 2016, American journal of medical genetics. Part A.

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism

G. Hendy, A. Mencarelli, A. Verrotti, 2017, The Journal of clinical endocrinology and metabolism.

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma

A. Mencarelli, P. Prontera, S. Esposito, 2018, International journal of molecular sciences.

Deletion 2 p 15 – 16 . 1 Syndrome : Case Report and Review

B. Dallapiccola, L. Bernardini, P. Prontera, 2011 .

A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile

A. Ferlini, A. Mencarelli, P. Prontera, 2020, American journal of medical genetics. Part A.

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro‐anophthalmia

A. Mencarelli, P. Prontera, E. Donti, 2011, American journal of medical genetics. Part A.

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

G. Merla, A. Mencarelli, P. Prontera, 2019, European Journal of Human Genetics.

Formation of PML/RAR alpha high molecular weight nuclear complexes through the PML coiled-coil region is essential for the PML/RAR alpha-mediated retinoic acid response.

D. Bonci, P. Pelicci, C. Nervi, 1999, Oncogene.

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21‐22.1 locus

M. Passos-Bueno, P. Prontera, C. Sobacchi, 2011, American journal of medical genetics. Part A.

Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q).

A. Mencarelli, P. Prontera, E. Donti, 2010, Genetic counseling.