|
MARINI M, BOCCIARDI R, GIMELLI S, DI DUCA M, DIVIZIA MT, BABAN A,
GASPAR H, MAMMI I, GARAVELLI L, CERONE R, EMMA F, BEDESCHI MF, TENCONI
R, SENSI A, SALMAGGI A, BENGALA M, MARI F., COLUSSI G, SZCZALUBA K,
ANTONARAKIS SE, SERI M, LERONE M, RAVAZZOLO R (2010). A spectrum of
LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion,
and evidence of mosaicism in unaffected parents. GENETICS IN MEDICINE,
vol. 12(7); p. 431-439, ISSN: 1098-3600
ULIANA V, GROSSO S, CIONI M, ARIANI F, PAPA FT, TAMBURELLO S, ROSSI
E, KATZAKI E, MUCCIOLO M, MAROZZA A, POLLAZZON M, MENCARELLI MA, MARI
F., BALESTRI P, RENIERI A (2010). 3.2 Mb microdeletion in chromosome 7
bands q22.2-q22.3 associated with overgrowth and delayed bone age.
EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 53(3); p. 168-170, ISSN:
1769-7212
MARCOCCI E, ULIANA V, BRUTTINI M, ARTUSO R, CIRILLO SILENGO M,
ZERIAL M, BERGESIO F, AMOROSO A, SAVOLDI S, PENNESI M, GIACHINO D,
ROMBOLÀ G, FOGAZZI G, ROSATELLI C, DRESCH MARTINHAGO C, CARMELLINI M,
MANCINI R, DI COSTANZO G, LONGO I, RENIERI A, MARI F. (2009). Autosomal
dominant Alport syndrome: molecular analysis of the COL4A4 gene and
clinical outcome. NEPHROLOGY DIALYSIS TRANSPLANTATION, ISSN: 0931-0509
MARI F., HERMANNS P, GIOVANNUCCI-UZIELLI ML, GALLUZZI F, SCOTT D,
LEE B, RENIERI A, UNGER S, ZABEL B, SUPERTI-FURGA A (2009). Refinement
of the 12q14 microdeletion syndrome: primordial dwarfism and
developmental delay with or without osteopoikilosis. EUROPEAN JOURNAL OF
HUMAN GENETICS, vol. 17; p. 1141-1147, ISSN: 1018-4813
MENCARELLI MA, SPANHOL-ROSSETO A, ARTUSO R, RONDINELLA D, DE
FILIPPIS R, BAHI-BUISSON N, NECTOUX J, RUBINSZTAJN R, BIENVENU T, MONCLA
A, CHABROL B, VILLARD L, KRUMINA Z, ARMSTRONG J, ROCHE A, PINEDA M, GAK
E, MARI F., ARIANI F, RENIERI A (2010). Novel FOXG1 mutations associated
with the congenital variant of Rett syndrome. JOURNAL OF MEDICAL
GENETICS, vol. 47(1); p. 49-53, ISSN: 0022-2593
PARRI V, KATZAKI E, ULIANA V, SCIONTI F, TITA R, ARTUSO R, LONGO I,
BOSCHLOO R, VIJZELAAR R, SELICORNI A, BRANCATI F, DALLAPICCOLA B,
ZELANTE L, HAMEL CP, SARDA P, LALANI SR, GRASSO R, BUONI S, HAYEK J,
SERVAIS L, DE VRIES BB, GEORGOUDI N, NAKOU S, PETERSEN MB, MARI F.,
RENIERI A, ARIANI F (2010). High frequency of COH1 intragenic deletions
and duplications detected by MLPA in patients with Cohen syndrome.
EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 18(10); p. 1133-1340, ISSN:
1018-4813
POLLAZZON M, GROSSO S, PAPA FT, KATZAKI E, MAROZZA A, MENCARELLI MA,
ULIANA V, BALESTRI P, MARI F., RENIERI A (2010). A 9.3 Mb microdeletion
of 3q27.3q29 associated with psychomotor and growth delay, tricuspid
valve dysplasia and bifid thumb. EUROPEAN JOURNAL OF MEDICAL GENETICS,
vol. 52(2-3); p. 131-133, ISSN: 1769-7212
KATZAKI E, MORIN G, POLLAZZON M, PAPA FT, BUONI S, HAYEK J, ANDRIEUX
J, LECERF L, POPOVICI C, RECEVEUR A, MATHIEU-DRAMARD M, RENIERI A, MARI
F., PHILIP N (2010). Syndromic mental retardation with thrombocytopenia
due to 21q22.11q22.12 deletion: Report of three patients. AMERICAN
JOURNAL OF MEDICAL GENETICS. PART A, vol. 152A(7); p. 1711-1717, ISSN:
1552-4825
ARTUSO R, MENCARELLI MA, POLLI R, SARTORI S, ARIANI F, POLLAZZON M,
MAROZZA A, CILIO MR, SPECCHIO N, VIGEVANO F, VECCHI M, BONIVER C, DALLA
BERNARDINA B, PARMEGGIANI A, BUONI S, HAYEK G, MARI F., RENIERI A,
MURGIA A (2010). Early-onset seizure variant of Rett syndrome:
definition of the clinical diagnostic criteria. BRAIN & DEVELOPMENT,
vol. 32(1); p. 17-24, ISSN: 0387-7604
PRATTICHIZZO C, MACCA M, NOVELLI V, GIORGIO G, BARRA A, FRANCO B,
ORAL-FACIAL-DIGITAL TYPE I OFDI COLLABORATIVE GROUP ABDULLA F,
ABRAMOWICZ M, AMY S, SCHAFER I, BANKIER A, WHITE S, BARCINA MG,
BARTOSHESKY LE, JENNY K, BEEMER FA, BENKE P, BETZ RC, BIANCHINI G,
GARAVELLI L, BIGONI S, BIRD L, CHIBUK J, MASSER-FRYE D, BRUNETTI N,
SCARCELLA A, BRUNNER HG, BURN J, CARMI R, CASTELLAN C, CASTELLUCCIO P,
CASTLE B, CHIONG MA, CUTIONGCO EM, COLLINS F, COUCHON E, CURRY A,
PASTORE M, CURRY C, SWENERTON A, TREISMAN T, DEAN J, DEVRIENDT K,
MATTHIJS G, DUNLAP JW, SHASHI V, ELCIOGLU N, FARNDON P, FERRERO GB,
FERRIER R, FOULDS N, FRIEDMAN JM, GAL A, ORTH U, GARDNER M, GEROLA O,
GILLESSEN-KAESBACH G, GIULIANO F, TURC-CAREL C, GÖDDE E, GRABER V,
GRAHAM GE, GURRIERI F, HARBOUR L, HENDERSON A, JONES E, HERAN H, HOMFRAY
T, TAYLOR R, IWARSSON E, JENSEN P, JEZELA-STANEK A, JOSS S, TAYLOR G,
KEELING SL, KLATT R, TEEBI A, KLEHR-MARTINELLI M, KOTZOT D, LEES M,
LOUGHLIN S, LHOTTA K, MACDONALD F, MARI F., RENIERI A, MARLIN S,
MCGAUGHRAN J, MCKENZIE F, MCLEOD DR, MEGARBANE A, MOTA CR, MUCKE J,
TZSCHACH A, OBERSZTYN E, OKHOWAT R, SHINZEL A, PFAU R, POBER B, RAYMOND
FL, REICH E, REIMSCHISEL T, ROBERTSON J, ROGGENBUCK J, SABATO A, SANCHEZ
DEL POZO J, SCHELL-APACIK C, SCHWAAB E, SELICORNI A, SELL S, SMITHSON S,
STRAY-PEDERSEN A, TAN T, THIESE H, TOL J, TOPRAK O, TRUMP D, WHITTAKER
J, WILLIAMS D, ZELANTE L, ZOLL B (2008). Mutational spectrum of the
oral-facial-digital type I syndrome: a study on a large collection of
patients. HUMAN MUTATION, vol. 29; p. 1237-1246, ISSN: 1059-7794
ARBUSTINI E, GRASSO M, ANSALDI S, MALATTIA C, PILOTTO A, PORCU E,
DISABELLA E, MARZILIANO N, PISANI A, LANZARINI L, MANNARINO S, LARIZZA
D, MOSCONI M, ANTONIAZZI E, ZOIA MC, MELONI G, MAGRASSI L, BREGA A,
BEDESCHI MF, TORRENTE I, MARI F., TAVAZZI L (2005). Identification of
sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated
probands with Marfan syndrome and other fibrillinopathies. HUMAN
MUTATION, vol. 26; p. 494, ISSN: 1059-7794
FRASCA GM, ONETTI-MUDA A, MARI F., LONGO I, SCALA E, PESCUCCI C,
ROCCATELLO, D, ALPA M, COPPO R, LI VOLTI G, FERIOZZI S, BERGESIO F,
SCHENA FP, RENIERI A, ITALIAN RENAL IMMUNOPATHOLOGY GROUP. (2005). Thin
glomerular basement membrane disease: clinical significance of a
morphological diagnosis--a collaborative study of the Italian Renal
Immunopathology Group. NEPHROLOGY DIALYSIS TRANSPLANTATION, vol. 20; p.
545-551, ISSN: 0931-0509
MARI F., AZIMONTI S, BERTANI I, BOLOGNESE F, COLOMBO E, CASELLI R,
SCALA E, LONGO I, GROSSO S, PESCUCCI C, ARIANI F, HAYEK G, BALESTRI P,
BERGO A, BADARACCO, G, ZAPPELLA M, BROCCOLI V, RENIERI A,
KILSTRUP-NIELSEN C, LANDSBERGER N. (2005). CDKL5 belongs to the same
molecular pathway of MeCP2 and it is responsible for the early-onset
seizure variant of Rett syndrome. HUMAN MOLECULAR GENETICS, vol. 14; p.
1935-1946, ISSN: 0964-6906
MARI F., CASELLI R, ARIANI F, RENIERI A (2005). La sindrome di Rett
e le varianti fenotipiche: dalla clinica alla genetica. PROSPETTIVE IN
PEDIATRIA, vol. 35; p. 211-220, ISSN: 0301-3642
MARI F., CASELLI R, RUSSO S, COGLIATI F, ARIANI F, LONGO I, BRUTTINI
M, MELONI I, PESCUCCI C, SCHURFELD K, TOTI P, TASSINI M, LARIZZA L,
HAYEK G, ZAPPELLA M, RENIERI A. (2005). Germline mosaicism in Rett
syndrome identified by prenatal diagnosis. CLINICAL GENETICS, vol. 67;
p. 258-260, ISSN: 0009-9163
SCALA E, ARIANI F, MARI F., CASELLI R, PESCUCCI C, LONGO I, MELONI
I, GIACHINO D, BRUTTINI M, HAYEK G, ZAPPELLA M, RENIERI A. (2005).
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
JOURNAL OF MEDICAL GENETICS, vol. 42; p. 103-107, ISSN: 0022-2593
ZAPPELLA M, MARI F., RENIERI A. (2005). Should a syndrome be called
by its correct name? The example of the preserved speech variant of Rett
syndrome. EUROPEAN JOURNAL OF PEDIATRICS, vol. 164; p. 710, ISSN:
0340-6199
MELONI I, PARRI V, DE FILIPPIS R, ARIANI F, ARTUSO R, BRUTTINI M,
KATZAKI E, LONGO I, MARI F., BELLAN C, DOTTI CG, RENIERI A (2009). The
XLMR gene ACSL4 plays a role in dendritic spine architecture.
NEUROSCIENCE, ISSN: 0306-4522
MENCARELLI MA, KLEEFSTRA T, KATZAKI E, PAPA FT, COHEN M, PFUNDT R,
ARIANI F, MELONI I, MARI F., RENIERI A (2009). 14q12 Microdeletion
syndrome and congenital variant of Rett syndrome. EUROPEAN JOURNAL OF
MEDICAL GENETICS, vol. 52; p. 148-152, ISSN: 1769-7212
NASTI S, PASTORINO L, BRUNO W, GARGIULO S, BATTISTUZZI L, ZAVATTARO
E, LEIGHEB G, DE FRANCESCO V, TULLI A, MARI F., SCARRÀ GB, GHIORZO P
(2009). Five novel germline function-impairing mutations of CYLD in
Italian patients with multiple cylindromas. CLINICAL GENETICS, vol. 76;
p. 481-485, ISSN: 0009-9163
SAMPIERI K, AMENDUNI M, PAPA FT, KATZAKI E, MENCARELLI MA, MAROZZA
A, EPISTOLATO MC, TOTI P, LAZZI S, BRUTTINI M, DE FILIPPIS R, DE
FRANCESCO S, LONGO I, MELONI I, MARI F., ACQUAVIVA A, HADJISTILIANOU T,
RENIERI A, ARIANI F (2009). Array comparative genomic hybridization in
retinoma and retinoblastoma tissues. CANCER SCIENCE, vol. 100; p.
465-471, ISSN: 1347-9032
ARIANI F, HAYEK G, RONDINELLA D, ARTUSO R, MENCARELLI MA,
SPANHOL-ROSSETO A, POLLAZZON M, BUONI S, SPIGA O, RICCIARDI S, MELONI I,
LONGO I, MARI F., BROCCOLI V, ZAPPELLA M, RENIERI A (2008). FOXG1 is
responsible for the congenital variant of Rett syndrome. AMERICAN
JOURNAL OF HUMAN GENETICS, vol. 83; p. 89-93, ISSN: 0002-9297
CASELLI R, MENCARELLI MA, PAPA FT, ARIANI F, LONGO I, MELONI I,
VONELLA G, ACAMPA M, AUTERI A, VICARI S, ORSI A, HAYEK G, RENIERI A,
MARI F. (2008). Delineation of the phenotype associated with 7q36.1q36.2
deletion: long QT syndrome, renal hypoplasia and mental retardation.
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 146A; p. 1195-1199,
ISSN: 1552-4825
MENCARELLI MA, KATZAKI E, PAPA FT, SAMPIERI K, CASELLI R, ULIANA V,
POLLAZZON M, CANITANO R, MOSTARDINI R, GROSSO S, LONGO I, ARIANI F,
MELONI I, HAYEK J, BALESTRI P, MARI F., RENIERI A (2008). Private
inherited microdeletion/microduplications: implications in clinical
practice. EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 51; p. 409-416,
ISSN: 1769-7212
PAPA FT, MENCARELLI MA, CASELLI R, KATZAKI E, SAMPIERI K, MELONI I,
ARIANI F, LONGO I, MAGGIO A, BALESTRI P, GROSSO S, FARNETANI MA, BERARDI
R, MARI F., RENIERI A (2008). A 3 Mb deletion in 14q12 causes severe
mental retardation, mild facial dysmorphisms and Rett-like features.
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 146A; p. 1994-1998,
ISSN: 1552-4825
RENIERI A, MARI F., MENCARELLI MA, SCALA E, ARIANI F, LONGO I,
MELONI I, CEVENINI G, PINI G, HAYEK G, ZAPPELLA M (2008). Diagnostic
criteria for the Zappella variant of Rett syndrome (the preserved speech
variant). BRAIN & DEVELOPMENT, ISSN: 0387-7604
SAMPIERI K, MENCARELLI MA, CARMELA EPISTOLATO M, TOTI P, LAZZI S,
BRUTTINI M, DE FRANCESCO S, LONGO I, MELONI I, MARI F., ACQUAVIVA A,
HADJISTILIANOU T, RENIERI A, ARIANI F (2008). Genomic differences
between retinoma and retinoblastoma. ACTA ONCOLOGICA, vol. 47; p.
1483-1492, ISSN: 0284-186X
ULIANA V, GIORDANO N, CASELLI R, PAPA FT, ARIANI F, MARCOCCI C,
GIANETTI E, MARTINI G, PAPAKOSTAS P, ROLLO F, MELONI I, MARI F., PRIOLO
M, RENIERI A, NUTI R (2008). Expanding the phenotype of 22q11 deletion
syndrome: the MURCS association. CLINICAL DYSMORPHOLOGY, vol. 17; p.
13-17, ISSN: 0962-8827
BENEDETTI S, MENDITTO I, DEGANO M, RODOLICO C, MERLINI L, D'AMICO A,
PALMUCCI, L, BERARDINELLI A, PEGORARO E, TREVISAN CP, MORANDI L, MORONI
I, GALLUZZI G, BERTINI E, TOSCANO A, OLIVÈ M, BONNE G, MARI F., CALDARA
R, FAZIO R, MAMMÌ I, CARRERA P, TONIOLO D, COMI G, QUATTRINI A, FERRARI
M, PREVITALI SC (2007). Phenotypic clustering of lamin A/C mutations in
neuromuscular patients. NEUROLOGY, vol. 69; p. 1285-1292, ISSN:
0028-3878
CASELLI R, MENCARELLI MA, PAPA FT, ULIANA V, SCHIAVONE S, STRAMBI M,
PESCUCCI C, ARIANI F, ROSSI V, LONGO I, MELONI I, RENIERI A, MARI F.
(2007). A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth
failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic
ears. EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 50 (4); p. 315-321,
ISSN: 1769-7212
CASELLI R, SPECIALE C, PESCUCCI C, ULIANA V, SAMPIERI K, BRUTTINI M,
LONGO I, DE FRANCESCO S, PRAMPARO T, ZUFFARDI O, FREZZOTTI R, ACQUAVIVA
A, HADJISTILIANOU T, RENIERI A, MARI F. (2007). Retinoblastoma and
mental retardation microdeletion syndrome: clinical characterization and
molecular dissection using array CGH. JOURNAL OF HUMAN GENETICS, vol. 52
(6); p. 535-542, ISSN: 1435-232X
KATZAKI E, PESCUCCI C, ULIANA V, PAPA FT, ARIANI F, MELONI I, PRIOLO
M, SELICORNI A, MILANI D, FISCHETTO R, CELLE ME, GRASSO R, DALLAPICCOLA
B, BRANCATI F, BORDIGNON M, TENCONI R, FEDERICO A, MARI F., RENIERI A,
LONGO I (2007). Clinical and molecular characterization of Italian
patients affected by Cohen syndrome. JOURNAL OF HUMAN GENETICS, vol. 52;
p. 1011-1017, ISSN: 1434-5161
MENCARELLI MA, CASELLI R, PESCUCCI C, HAYEK G, ZAPPELLA M, RENIERI
A, MARI F. (2007). Clinical and molecular characterization of a patient
with a 2q31.2-32.3 deletion identified by array-CGH. AMERICAN JOURNAL OF
MEDICAL GENETICS. PART A, vol. 143 (8); p. 858-865, ISSN: 1552-4825
MICHELI V, SESTINI S, PARRI V, FICHERA M, ROMANO C, ARIANI F, LONGO
I, MARI F., BRUTTINI M, RENIERI A, MELONI I (2007). RSK2 enzymatic assay
as a second level diagnostic tool in Coffin-Lowry syndrome. CLINICA
CHIMICA ACTA, vol. 384; p. 35-40, ISSN: 0009-8981
PESCUCCI C, CASELLI R, GROSSO S, MENCARELLI MA, MARI F., FARNETANI
MA, PICCINI B, ARTUSO R, BRUTTINI M, PRIOLO M, ZUFFARDI O, GIMELLI S,
BALESTRI P, RENIERI A (2007). 2q24-q31 Deletion: Report of a case and
review of the literature. EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 50;
p. 21-32, ISSN: 1769-7212
PESCUCCI C, CASELLI R, MARI F., SPECIALE C, ARIANI F, BRUTTINI M,
SAMPIERI K, MENCARELLI MA, SCALA E, LONGO I, ARTUSO R, RENIERI A, MELONI
I, XLMR ITALIAN, NETWORK (2007). The Italian XLMR bank: a clinical and
molecular database. HUMAN MUTATION, vol. 28; p. 13-18, ISSN: 1059-7794
SAMPIERI K, MELONI I, SCALA E, ARIANI F, CASELLI R, PESCUCCI C,
LONGO I, ARTUSO R, BRUTTINI M, MENCARELLI MA, SPECIALE C, CAUSARANO V,
HAYEK G, ZAPPELLA M, RENIERI A, MARI F. (2007). Italian Rett database
and biobank. HUMAN MUTATION, vol. 28 (4); p. 329-335, ISSN: 1059-7794
SCALA E, LONGO I, OTTIMO F, SPECIALE C, SAMPIERI K, KATZAKI E,
ARTUSO R, MENCARELLI MA, D'AMBROGIO T, VONELLA G, ZAPPELLA M, HAYEK G,
BATTAGLIA A, MARI F., RENIERI A, ARIANI F (2007). MECP2 deletions and
genotype-phenotype correlation in Rett syndrome. AMERICAN JOURNAL OF
MEDICAL GENETICS. PART A, vol. 143A; p. 2775-2784, ISSN: 1552-4825
SQUILLARO T, CAMBI F, CIACCI G, ROSSI S, ULIVELLI M, MALANDRINI A,
MENCARELLI MA, MARI F., RENIERI A, ARIANI F (2007). Frequency of the
LRRK2 G2019S mutation in Italian patients affected by Parkinson's
disease. JOURNAL OF HUMAN GENETICS, ISSN: 1434-5161
ARIANI F, LONGO I, FREZZOTTI P, PESCUCCI C, MARI F., CAPOROSSI A,
FREZZOTTI R, RENIERI A (2006). Optineurin gene is not involved in the
common high-tension form of primary open-angle glaucoma. GRAEFE'S
ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, vol. 27; p. 1-6,
ISSN: 0721-832X
LONGO I, SCALA E, MARI F., CASELLI R, PESCUCCI C, MENCARELLI MA,
SPECIALE C, GIANI M, BRESIN E, CARINGELLA DA, BOROCHOWITZ ZU,
SIRIWARDENA K, WINSHIP I, RENIERI A, MELONI I. (2006). Autosomal
recessive Alport syndrome: an in-depth clinical and molecular analysis
of five families. NEPHROLOGY DIALYSIS TRANSPLANTATION, vol. 21; p.
665-671, ISSN: 0931-0509
MARI F., GIACHINO D, RUSSO L, PILIA G, ARIANI F, SCALA E, CHIAPPE F,
SAMPIERI K, CAPOROSSI A, RENIERI A, LASORELLA G (2006). Blepharophimosis,
ptosis, and epicanthus inversus syndrome: clinical and molecular
analysis of a case. JOURNAL OF AAPOS, vol. 10; p. 279-280, ISSN:
1091-8531
SAMPIERI K, HADJISTILIANOU T, MARI F., SPECIALE C, MENCARELLI MA,
CETTA F, MANOUKIAN S, PEISSEL B, GIACHINO D, PASINI B, ACQUAVIVA A,
CAPOROSSI A, FREZZOTTI R, RENIERI A, BRUTTINI M (2006). Mutational
screening of the RB1 gene in Italian patients with retinoblastoma
reveals 11 novel mutations. JOURNAL OF HUMAN GENETICS, vol. 51; p.
209-216, ISSN: 1435-232X
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