M. L. Uzielli

发表

Validation of STR system FXIIIB for forensic investigation in a population of Central Italy

U. Ricci, I. Sani, M. L. Uzielli, 2004 .

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

K. Pelin, K. Bushby, C. Wallgren‐Pettersson, 2002, Neuromuscular Disorders.

Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data.

E. Lapi, F. Vieri, F. Gori, 1999, American journal of medical genetics.

Correction: Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies

I. Krantz, D. Dorsett, S. Kulkarni, 2009, PLoS ONE.

Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies

I. Krantz, D. Dorsett, J. Milbrandt, 2009, PloS one.

A new duplex PCR system for YCAII and DXYS156Y microsatellites analysis

U. Ricci, I. Sani, M. L. Uzielli, 2003 .

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

G. Neri, A. Bentivegna, A. Selicorni, 2006, BMC Medical Genetics.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, American journal of human genetics.

Isochromosome not translocation in trisomy 21q21q

F. Bricarelli, L. Perroni, M. Pierluigi, 1989, Human Genetics.

Identification of mutations in CUL7 in 3-M syndrome

A. Munnich, P. Scambler, R. Hennekam, 2005, Nature Genetics.

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation

P. Gasparini, B. Giometto, S. Coviello, 2001, Brain and Development.

Genetic variation at the STR loci D12S391 and CSF1PO in four populations from Austria, Italy, Egypt and Yemen.

M. Klintschar, B. Reichenpfader, U. Ricci, 1998, Forensic science international.

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Francesca Forzano, Hui Zou, Susan Chang, 2008, Human molecular genetics.

Infrared fluorescent automated detection of thirteen short tandem repeat polymorphisms and one gender‐determining system of the CODIS core system

E. Andreucci, U. Ricci, I. Sani, 2000, Electrophoresis.

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

R. Hennekam, E. Jabs, J. Hurst, 2009, Journal of Medical Genetics.

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.

D. Nelson, S. Warren, A. V. D. van den Ouweland, 1994, Human molecular genetics.

Rapid prenatal diagnosis of myotonic dystrophy in the second trimester using polymerase chain reaction

B. Dallapiccola, G. Novelli, M. Gennarelli, 1990 .

Analysis of mitochondrial DNA with an infrared automated DNA sequencer in a Tuscan population (Central Italy)

U. Ricci, I. Sani, M. L. Uzielli, 2003 .

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

W. Brown, P. Jacobs, D. Chitayat, 1999, American journal of medical genetics.

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

E. Jabs, H. Kayserili, R. Hennekam, 2009, Journal of Medical Genetics.