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Titolo Data di pubblicazione Autore(i) File
ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21 1-gen-1995 Gurrieri, F; Cammarata, M; Avarello, Rm; Genuardi, M; Pomponi, Mg; Neri, G; Giuffre, L
MUTATIONAL ANALYSIS OF DISTAL-LESS GENES IN SPLIT HAND SPLIT FOOT ANOMALY 1-gen-1995 Genuardi, M; Gurrieri, F; Nanni, L; Boncinelli, E; Evans, Jp; Neri, G
The search for genes that cause holoprosencephaly: possible approaches. 1-gen-1996 Gurrieri, F; Muenke, M.
A split hand-split foot (SHFM3) gene is located at 10q24-->25 1-gen-1996 Gurrieri, Fiorella; Prinos, P; Tackels, D; Kilpatrick, Mw; Allanson, J; Genuardi, M; Vuckov, A; Nanni, L; Sangiorgi, Eugenio; Garofalo, G; Nunes, Me; Neri, Giovanni; Schwartz, C; Tsipouras, P.
Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): Relevance to the Wolf-Hirschhorn and Down syndrome critical regions 1-gen-1996 Sebastio, C; Perone, L; Guzzetta, V; Sebastio, L; Vicari, L; Dellacasa, R; Gurrieri, F; Zappata, S; Pomponi, Mg; Mazzei, A; Neri, G; Andria, G; Brahe, C
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy 1-gen-1997 Battaglia, A; Gurrieri, Fiorella; Bertini, E; Bellacosa, A; Pomponi, Mg; Paravatou Petsotas, M; Mazza, Salvatore; Neri, Giovanni
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients 1-gen-1997 Bettio, D; Rizzi, N; Giardino, D; Gurrieri, F; Silvestri, G; Grugni, G
The growth hormone response to exarelin in patients with Prader Willi syndrome 1-gen-1998 Cappa, M; Raguso, G; Palmiotto, T; Faedda, A; Gurrieri, F; Neri, G; Deghenghi, R; Loche, S
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome 1-gen-1998 Neri, G; Gurrieri, F; Zanni, G; Lin, A
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13 1-gen-1999 Gurrieri, Fiorella; Battaglia, A; Torrisi, L; Tancredi, R; Cavallaro, C; Sangiorgi, Eugenio; Neri, Giovanni
Letter to the Editor - Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome 1-gen-1999 Battaglia, A; Gurrieri, F
P63 mutations in the EEC, Hay-Wells, ADULT syndromes and in split hand/foot malformation reveals a genotype-phenotype correlation. RID D-5697-2011 1-gen-2000 Van Bokhoven, H; Mcgrath, Ja; Duljf, P; Celli, J; Hamel, Bcj; de Waal, R; Yang, A; Mckeon, F; Doetsch, V; Vanmolkot, K; Propping, P; Gurrieri, F; Neri, G; Bamshad, M; Brunner, Hg
p63 mutations account for a range of congenital anomaly syndromes with a clear genotype phenotype correlation RID D-5697-2011 1-gen-2000 Brunner, H; Mcgrath, Ja; Celli, J; Duijf, P; Gurrieri, F; Mckeon, F; Propping, P; Bamshad, M; van Bokhoven, H; Hamel, B; Neri, G; Doetsch, V; de Waal, R; Yang, A; Vanmolkot, K
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21 1-gen-2001 Tackels-Horne, D; Toburen, A; Sangiorgi, E; Gurrieri, F; de Mollerat, X; Fischetto, R; Causio, F; Clarkson, K; Stevenson, Re; Schwartz, Ce
Chromosome 15 cryptic rearrangements in pervasive developmental disorders. 1-gen-2001 Gurrieri, F; Russo, L; Giordano, T; De Vincenzi, E; Neri, G
The genetics of epilepsy - Introduction 1-gen-2001 Gurrieri, F; Carrozzo, R
New syndrome of mental retardation, Robin sequence, and brachydactyly 1-gen-2001 Gurrieri, F; Steindl, K; Giglio, S; Neri, G
Rearrangements of chromosome 15 in epilepsy 1-gen-2001 Torrisi, L; Sangiorgi, E; Russo, L; Gurrieri, F
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation 1-gen-2001 van Bokhoven, H; Hamel, Bcj; Bamshad, M; Sangiorgi, E; Gurrieri, F; Duijf, Phg; Vanmolkot, Krj; van Beusekom, E; van Beersum, Sec; Celli, J; Merkx, Gfm; Tenconi, R; Fryns, Jp; Verloes, A; Newbury-Ecob, Ra; Raas-Rotschild, A; Majewski, F; Beemer, Fa; Janecke, A; Chitayat, D; Crisponi, G; Kayserili, H; Yates, Jrw; Neri, G; Brunner, Hg
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. 1-gen-2001 Grimm, T; Teglund, S; Tackels, D; Sangiorgi, E; Gurrieri, F; Schwartz, C; Toftgård, R.
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