Linkage analysis in a family with Stickler syndrome leads to the exclusion of the COL2A1 locus

P.F. Pignatti , F. Zolezzi , M. Mottes
American Journal of Human Genetics 55

1994
TREATMENT OF SKELETAL DISEASES WITH A NATURALLY DERIVED ANTIOXIDANT AND BISPHOSPHONATE EMBEDDED NANOPARTICLES

M. Perduca , S. Cheri , Giulia Glorani , A Pisani
BIOMATERIALS FOR HEALTHCARE 201 -204

2016
No osteonecrosis of the jaw in children and adolescents treated with Neridronate for osteogenesis imperfecta.

M. Mottes , F. Antoniazzi , E. Maines , G. Morandi
1th International Conference on Osteogenesis Imperfecta 61 -61

2011
Identificazione ed analisi della regione 5' del gene umano per l'enzima farnesil difosfato sintetasi (FDPS).

A Sangalli , P Lorenzi , Mg Romanelli , M. Mottes
IX Congresso AIBG 1 -1

2006
Un test cellulare per la diagnosi delle sindromi di Ehlers-Danlos

N. Zoppi , M. Colombi , De . Paepe A , A. Renieri
VII Congresso Nazionale SIGU 157 -157

2004
2005
Molecular screening in OI patients at Verona reference center: typical mutations

M. Mottes , E. Tedeschi , G. Venturi , C. Lievore
IX International meeting on Osteogenesis Imperfecta 35 -35

2005
Osteogenesis imperfecta at the beginning of bone and joint decade

Dragan Primorac , David W Rowe , M. Mottes , I Barisic
Croatian Medical Journal 42 ( 4) 393 -415

42
2001
Increased Gene Expression of RUNX2 and SOX9 in Mesenchymal Circulating Progenitors Is Associated with Autophagy during Physical Activity.

L. Dalle Carbonare , M. Mottes , S. Cheri , M. Deiana
Oxidative Medicine and Cellular Longevity 2019 ( 8426259) 8426259

10
2019
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.

M. Gomez Lira , M. Mottes , P.F. Pignatti , I. Medica
Human Mutation 16 ( 3) 271 -271

5
2000
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix

A. Forlino , F. Zolezzi , M. Valli , P.F. Pignatti
Human Molecular Genetics 3 ( 12) 2201 -2206

11
1994
Two novel missense mutations causing adrenoleukodystrophy in Italian patients

C. Perusi , M. Gomez-Lira , M. Mottes , P.F. Pignatti
Molecular and Cellular Probes 13 ( 3) 179 -182

5
1999
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease.

M. Gomez-Lira , M. Mottes , C. Perusi , P.F. Pignatti
Molecular and Cellular Probes 15 ( 2) 75 -79

6
2001
Rapid and efficient genotype analysis of the COL1a1 Sp1 binding site dimorphism, a genetic marker for bone mineral density.

S. Mirandola , A. Sangalli , M. Mottes
Molecular and Cellular Probes 16 ( 1) 73 -75

4
2002
A novel intragenic polymorphism within the COL1A1 locus which can be detected byTaqI restriction of amplified genomic DNA

S. Mirandola , P.F. Pignatti , M. Mottes
Molecular and Cellular Probes 13 ( 3) 243 -245

1
1999
Bone histomorphometry in acromegaly patients with fragility vertebral fractures.

L. Dalle Carbonare , V. Micheletti , E. Cosaro , M. T. Valenti
Pituitary 21 ( 1) 56 -64

22
2018
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability

F. Zolezzi , M. Valli , M. Clementi , I. Mammi
American Journal of Medical Genetics 71 ( 3) 366 -370

19
1997
2011
Association of BK virus with human brain tumors and tumors of pancreatic islets.

A. Corallini , M. Pagnani , P. Viadana , E. Silini
International Journal of Cancer 39 ( 1) 60 -67

109
1987