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M. Baffico · SciRah

Researcher profile · Semantic Scholar

M. Baffico

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M. Baffico — researcher profile on SciRah

h-index: 10
Works: 29
Citations: 258

Most-cited papers

Duplications upstream and downstream of SHOX identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature
D. Bunyan, M. Baffico, L. Capone, S. Vannelli +7 more
2016American Journal of Medical Genetics. Part A29 citations Open access
Semantic Scholar
Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature
A. Nazzaro, M. Della Monica, F. Lonardo, A. Di Blasi +5 more
2004Prenatal Diagnosis28 citations
Semantic Scholar
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs
F. Natacci, M. Baffico, Ugo Cavallari, M. Bedeschi +5 more
2008American Journal of Medical Genetics. Part A25 citations
Semantic Scholar
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation
P. de Biasio, F. Prefumo, M. Baffico, M. Baldi +4 more
2000Prenatal Diagnosis24 citations
Semantic Scholar
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
G. Camera, M. Baldi, G. Strisciuglio, D. Concolino +2 more
2001American journal of medical genetics22 citations
Semantic Scholar
Identification of Mediterranean beta-thalassemia mutations by reverse dot-blot in Italians and Egyptians.
M. Rady, M. Baffico, A. S. Khalifa, N. Heshmat +5 more
1997Hemoglobin19 citations
Semantic Scholar
Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes.
A. Cohen, R. Mulas, M. Seri, A. Gaiero +4 more
2002American journal of medical genetics18 citations
Semantic Scholar
Expression of the human ETS-2 oncogene in normal fetal tissues and in the brain of a fetus with trisomy 21
M. Baffico, L. Perroni, A. Rasore-Quartino, P. Scartezzini
1989Human Genetics14 citations
Semantic Scholar
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the PGFR2 gene
M. Priolo, M. Lerone, M. Baffico, M. Baldi +4 more
2000Clinical Genetics10 citations
Semantic Scholar
A novel β‐globin structural mutant, Hb Brescia (β114 Leu‐Pro), causing a severe β‐thalassemia intermedia phenotype
S. Murru, D. Poddie, G. Sciarratta, S. Agosti +4 more
199210 citations Open access
Semantic Scholar
SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators
S. Vannelli, M. Baffico, Raffaele Buganza, F. Verna +5 more
2020Italian Journal of Pediatrics9 citations Open access
Semantic Scholar
Hb Trento: An Elongated C‐Terminal β Chain Due to a New Frameshift Mutation [β144 (−A)]
G. Ivaldi, O. David, M. Baffico, D. Leone +7 more
20038 citations
Semantic Scholar
Fontaine-Farriaux craniosynostosis: second report in the literature.
M. Priolo, Teresina De Toni, M. Baffico, Armando Cama +8 more
2001American journal of medical genetics8 citations
Semantic Scholar
EBNA-negative polyclonal B cells derived from a long-term culture of unclassified acute lymphoblastic leukemia: IL-2-like activity of culture's supernatant.
M. Parodi, M. Baffico, G. Tonini, Giorgio Dini +3 more
1986The International Journal Of Cell Cloning8 citations
Semantic Scholar
Hb Bologna-St. Orsola [beta146(HC3)His-->Tyr]: a new high oxygen affinity variant with halved Bohr effect and highly reduced reactivity towards 2,3-diphosphoglycerate.
G. Ivaldi, O. David, V. Paradossi, M. Baffico +6 more
1999Hemoglobin6 citations
Semantic Scholar
FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?
P. Prontera, A. Sensi, G. Pilu, M. Baldi +3 more
2006Genetic Counseling5 citations
Semantic Scholar
A new fast-moving variant causing erythrocytosis and mild hemolysis: Hb Gàmbara [beta 82(EF6)Lys-->Glu].
G. Ivaldi, V. Scimè-Degani, O. David, M. Baffico +7 more
1997Hemoglobin5 citations
Semantic Scholar
A novel fibroblast growth factor receptor 2 (FGFR2) mutation associated with a mild Crouzon syndrome.
N. Locuratolo, M. Baffico, M. Baldi, Vincenzo Parisi +5 more
2011Archives Italiennes de Biologie3 citations
Semantic Scholar
A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype.
S. Murru, D. Poddie, G. Sciarratta, S. Agosti +4 more
1992Human Mutation3 citations
Semantic Scholar
Bilateral carcinoma in situ of the testis and cystic fibrosis transmembrane conductance regulator (CFTR) mutation in an azoospermic patient with late-onset 21β-hydroxylase deficiency
L. Foppiani, M. Baffico, G. Lando, C. Cappi +6 more
2004Journal of Endocrinological Investigation1 citations
Semantic Scholar
Hb Trento: an elongated C-terminal beta chain due to a new frameshift mutation [beta144 (-A)].
Giovanni Ivaldi, O. David, M. Baffico, D. Leone +7 more
2003Hemoglobin1 citations
Semantic Scholar
Mutation of FGFR3 in a Patient with Craniosynostosis, Hypochondroplasia and Growth Hormone Deficiency
M. Coco, T. Mattina, M. Mancuso, A. Zingale +2 more
20031 citations
Semantic Scholar
Direct DNA analysis in a new Italian carrier of Hb-Belfast: beta 15 (A12) Trp-->Arg.
V. Scimè-Degani, G. Ivaldi, M. Baffico, D. Leone +4 more
2001Panminerva Medica (Testo stampato)1 citations
Semantic Scholar
Susceptibility haplotypes in non-cystic fibrosis newborns with elevated immunoreactive trypsinogen
Francesca Rosamilia, Giulia Camisassi, Giulia Amico, K. Zybert +16 more
2026Molecular Medicine0 citations Open access
Semantic Scholar
WS11.01 Divergent diagnostic assessment of cystic fibrosis and related disorders: an analysis of paediatric cases categorisation by 50 international specialists
S. Albertinetti, R. Casciaro, M. Baffico, D. Coviello +2 more
2022Journal of Cystic Fibrosis0 citations Open access
Semantic Scholar
Health Technology Assessment Of The Genetic Tests For Cystic Fibrosis Carrier Screening in Italy
V. Vuković, G. Calabrò, A. Agodi, M. Baffico +9 more
20180 citations
Semantic Scholar
[Familial Mediterranean fever: report of a case].
M. Parodi, T. Coialbu, M. Pittaluga, R. Cosso +3 more
2000Clinica Terapeutica0 citations
Semantic Scholar
[Use of OKT3 monoclonal antibodies and anti-TAC for the quantitative evaluation of interleukin-2].
P. Cornaglia‐Ferraris, M. Baffico
1985Bollettino dell'Istituto sieroterapico milanese0 citations
Semantic Scholar
[Changes in erythrocyte membrane protein in congenital dyserythropoietic anemia type II (C.D.A.II, HEMPAS)].
P. Scartezzini, G. Forni, M. Baldi, G. Veneziano +1 more
1985Pathologica0 citations
Semantic Scholar

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