MAKRYTHANASIS P, KAPRANOV P, BARTOLONI L, REYMOND A, DEUTSCH S,
GUIGÓ R, DENOEUD F, DRENKOW J, ROSSIER C, ARIANI F, CAPRA V, EXCOFFIER
L, RENIERI A., GINGERAS TR, ANTONARAKIS SE (2009). Variation in novel
exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and
controls. HUMAN MUTATION, vol. 30; p. 866-879, ISSN: 1059-7794
MARCOCCI E, ULIANA V, BRUTTINI M, ARTUSO R, SILENGO MC, ZERIAL M,
BERGESIO F, AMOROSO A, SAVOLDI S, PENNESI M, GIACHINO D, ROMBOLÀ G,
FOGAZZI GB, ROSATELLI C, MARTINHAGO CD, 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, vol. 24; p. 1464-1471,
ISSN: 0931-0509
GAUDIANO C, MALANDRINI A, POLLAZZON M, MURRU S, MARI F, RENIERI A.,
FEDERICO A (2009). Leukoencephalopathy in 21-beta hydroxylase
deficiency: Report of a family. BRAIN & DEVELOPMENT, ISSN: 0387-7604
KATZAKI E, PAPA FT, MUCCIOLO M, ULIANA V, RENIERI A. (2009). Is
HSD17B1 a new sex reversal gene in human?. MOLECULAR AND CELLULAR
ENDOCRINOLOGY, ISSN: 0303-7207
GARAVELLI L, ZOLLINO M, MAINARDI PC, GURRIERI F, RIVIERI F, SOLI F,
VERRI R, ALBERTINI E, FAVARON E, ZIGNANI M, ORTESCHI D, BIANCHI P,
FARAVELLI F, FORZANO F, SERI M, WISCHMEIJER A, TURCHETTI D, POMPILII E,
GNOLI M, COCCHI G, MAZZANTI L, BERGAMASCHI R, DE BRASI D, SPERANDEO MP,
MARI F, ULIANA V, MOSTARDINI R, CECCONI M, GRASSO M, SASSI S, SEBASTIO
G, RENIERI A., SILENGO M, BERNASCONI S, WAKAMATSU N, NERI G (2009).
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19
Italian patients and review of the literature. AMERICAN JOURNAL OF
MEDICAL GENETICS. PART A, vol. 149A; p. 417-426, ISSN: 1552-4825
SQUILLARO T, ALESSIO N, CIPOLLARO M, RENIERI A., GIORDANO A,
GALDERISI U (2010). Partial silencing of methyl cytosine protein binding
2 (MECP2) in mesenchymal stem cells induces senescence with an increase
in damaged DNA. FASEB JOURNAL, ISSN: 0892-6638
RODRIGUEZ JD, BHAT SS, MELONI I, LADD S, LESLIE ND, DOYNE EO,
RENIERI A., DUPONT BR, STEVENSON RE, SCHWARTZ CE, SRIVASTAVA AK (2010).
Intellectual disability, midface hypoplasia, facial hypotonia, and
Alport syndrome are associated with a deletion in Xq22.3. AMERICAN
JOURNAL OF MEDICAL GENETICS. PART A, vol. 152A; p. 713-717, ISSN:
1552-4825
FREZZOTTI P, PESCUCCI C, PAPA FT, IESTER M, MITTICA V, MOTOLESE I,
PERUZZI S, ARTUSO R, LONGO I, MENCARELLI MA, MITTICA P, MOTOLESE E,
RENIERI A. (2010). Association between primary open-angle glaucoma
(POAG) and WDR36 sequence variance in Italian families affected by POAG.
BRITISH JOURNAL OF OPHTHALMOLOGY, ISSN: 0007-1161
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; p. 1711-1717, ISSN:
1552-4825
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; p. 1133-1140, ISSN:
1018-4813
PINTAUDI M, CALEVO MG, VIGNOLI A, PARODI E, AIELLO F, BAGLIETTO MG,
HAYEK Y, BUONI S, RENIERI A., RUSSO S, COGLIATI F, GIORDANO L, CANEVINI
M, VENESELLI E (2010). Epilepsy in Rett syndrome: Clinical and genetic
features. EPILEPSY & BEHAVIOR, ISSN: 1525-5050
ARTUSO R, MENCARELLI MA, POLLI R, SARTORI S, ARIANI F, POLLAZZON M,
MAROZZA A, CILIO MR, SPECCHIO N, VIGEVANO F, VECCHI M, BONIVER C,
BERNARDINA BD, PARMEGGIANI A, BUONI S, HAYEK G, MARI F, RENIERI A.,
MURGIA A (2009). Early-onset seizure variant of Rett syndrome:
Definition of the clinical diagnostic criteria. BRAIN & DEVELOPMENT,
ISSN: 0387-7604
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; p. 168-170, ISSN:
1769-7212
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 M, 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. (2009). Novel FOXG1 mutations associated
with the congenital variant of Rett syndrome. JOURNAL OF MEDICAL
GENETICS, ISSN: 0022-2593
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
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, vol. 53 (3); p. 201-204, ISSN:
1435-232X
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 (23); p. 2775-2784, 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(5); 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. 15; p. 1994-1998,
ISSN: 1552-4825
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(8); p.
1483-1492, ISSN: 0284-186X
SQUILLARO T, HAYEK G, FARINA E, CIPOLLARO M, RENIERI A., GALDERISI U
(2008). A case report: bone marrow mesenchymal stem cells from a Rett
syndrome patient are prone to senescence and show a lower degree of
apoptosis. JOURNAL OF CELLULAR BIOCHEMISTRY, vol. 103(6); p. 1877-1885,
ISSN: 0730-2312
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 (1); p.
13-17, ISSN: 0962-8827
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
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
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 (11); p. 710, ISSN:
0340-6199
CASELLI R, PAPA F.T, ARIANI F, MELONI I, RENIERI A. (2007). X-linked
mental retardation: a diagnostic, clinical and molecular update. In: D.
RIVA, S. BULGHERONI, C. PANTALEONI. Mental Retardation. p. 79-91,
MONTROUGE: John Libbey Eurotext
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 (2); p. 103-107, ISSN: 0022-2593
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(1); p. 89-93, ISSN: 0002-9297
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
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 (1); p. 8-13, ISSN:
1059-7794
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
(1); p. 21-32, ISSN: 1769-7212
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(9); p.
1195-1199, ISSN: 1552-4825
BUGIANI M, GYFTODIMOU Y, TSIMPOUKA P, LAMANTEA E, KATZAKI E, D'ADAMO
P, NAKOU S, GEORGOUDI N, GRIGORIADOU M, TSINA E, KABOLIS N, MILANI D,
PANDELIA E, KOKOTAS H, GASPARINI P, GIANNOULIA-KARANTANA A, RENIERI A.,
ZEVIANI M, PETERSEN MB (2008). Cohen syndrome resulting from a novel
large intragenic COH1 deletion segregating in an isolated Greek island
population. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 146A(17);
p. 2221-2226, ISSN: 1552-4825
CASTELLETTI F, DONADELLI R, BANTERLA F, HILDEBRANDT F, ZIPFEL PF,
BRESIN E, OTTO E, SKERKA C, RENIERI A., TODESCHINI M, CAPRIOLI J, CARUSO
RM, ARTUSO R, REMUZZI G, NORIS M (2008). Mutations in FN1 cause
glomerulopathy with fibronectin deposits. PROCEEDINGS OF THE NATIONAL
ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, vol. 105 (7); p.
2538-2543, ISSN: 0027-8424
GRECO D, ROMANO C, REITANO S, BARONE C, BENEDETTO DD, CASTIGLIA L,
FICHERA M, GALESI O, ZINGALE M, BUONO S, ULIANA V, CASELLI R, CANITANO
R, HAYEK G, RENIERI A. (2008). Three new patients with
dup(17)(p11.2p11.2) without autism. CLINICAL GENETICS, vol. 73 (3); p.
294-296, ISSN: 0009-9163
GROSSO S, PUCCI L, CURATOLO P, COPPOLA G, BARTALINI G, DI BARTOLO R,
SCARINCI R, RENIERI A., BALESTRI P (2008). Epilepsy and
electroencephalographic anomalies in chromosome 2 aberrations A review.
EPILEPSY RESEARCH, ISSN: 0920-1211
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. (2008). The
XLMR gene ACSL4 plays a role in dendritic spine architecture.
NEUROSCIENCE, ISSN: 0306-4522
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 (3); 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 (3); p. 279-280,
ISSN: 1091-8531
POLLAZZON M, SUOMINEN T, PENTTILÄ S, MALANDRINI A, CARLUCCIO MA,
MONDELLI M, MAROZZA A, FEDERICO A, RENIERI A., HACKMAN P, DOTTI MT, UDD
B (2009). The first Italian family with tibial muscular dystrophy caused
by a novel titin mutation. JOURNAL OF NEUROLOGY, ISSN: 0340-5354
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
GROSSO S, BROGNA A, BAZZOTTI S, RENIERI A., MORGESE G, BALESTRI P
(2007). Seizures and electroencephalographic findings in CDKL5
mutations: case report and review. BRAIN & DEVELOPMENT, vol. 29 (4); p.
239-242, ISSN: 0387-7604
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
(12); p. 1007-1011, ISSN: 1435-232X
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 (1-2); p. 35-40, ISSN: 0009-8981
VOGIATZI P, VINDIGNI C, ROVIELLO F, RENIERI A., GIORDANO A (2007).
Deciphering the underlying genetic and epigenetic events leading to
gastric carcinogenesis. JOURNAL OF CELLULAR PHYSIOLOGY, vol. 211 (2); p.
287-295, ISSN: 0021-9541
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. 244 (9); p.
1077-1082, ISSN: 0721-832X
SQUILLARO T, HAYEK G, FARINA E, CIPOLLARO M, RENIERI A., GALDERISI U
(2007). A case report: Bone marrow mesenchymal stem cells from a rett
syndrome patient are prone to senescence and show a lower degree of
apoptosis. JOURNAL OF CELLULAR BIOCHEMISTRY, vol. Epub ahead of print,
ISSN: 0730-2312
RENIERI A., PESCUCCI C, LONGO I, ARIANI F, MARI F, MELONI I (2005).
Non-syndromic X-linked mental retardation: from a molecular to a
clinical point of view. JOURNAL OF CELLULAR PHYSIOLOGY, vol. 204 (1); p.
8-20, ISSN: 0021-9541
PESCUCCI C, MELONI I, RENIERI A. (2005). Is Rett syndrome a
loss-of-imprinting disorder?. NATURE GENETICS, vol. 37 (1); p. 31-40,
ISSN: 1061-4036
POLLAZZON M, GROSSO S, PAPA FT, KATZAKI E, MAROZZA A, MENCARELLI MA,
ULIANA V, BALESTRI P, MARI F, RENIERI A. (2009). 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; p. 131-133, ISSN: 1769-7212
ARNOLDI A, TONELLI A, CRIPPA F, VILLANI G, PACELLI C, SIRONI M,
POZZOLI U, D'ANGELO MG, MEOLA G, MARTINUZZI A, CRIMELLA C, REDAELLI F,
PANZERI C, RENIERI A., COMI GP, TURCONI AC, BRESOLIN N, BASSI MT (2008).
A clinical, genetic, and biochemical characterization of SPG7 mutations
in a large cohort of patients with hereditary spastic paraplegia. HUMAN
MUTATION, 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 (3);
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 seizure
variant of Rett sindrome. HUMAN MOLECULAR GENETICS, vol. 14 (14); p.
1935-1946, ISSN: 0964-6906
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
(3); p. 258-260, ISSN: 0009-9163
PESCUCCI C, LONGO I, MARI F, SCALA E, BRUTTINI M, CASELLI R, RENIERI
A. (2005). Clinical and genetic features of the Alport 'syndromes'.
GIORNALE ITALIANO DI NEFROLOGIA, vol. 22 (5); p. 466-476, ISSN:
0393-5590
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 (3); p.
209-216, ISSN: 1435-232X
BUCALOSSI A, TORALDO F, TOZZI M, LENOCI M, CASTAGNINI C, ARTUSO R,
RENIERI A., MAROTTA G (2010). Is complement alternative pathway
disregulation involved in veno-occlusive disease of the liver?. BIOLOGY
OF BLOOD AND MARROW TRANSPLANTATION, ISSN: 1083-8791
BUONI S, ZANNOLLI R, FELICE CD, NICOLA AD, GUERRI V, GUERRA B,
CASALI S, PUCCI B, CORBINI L, MARI F, RENIERI A., ZAPPELLA M, HAYEK J
(2010). EEG features and epilepsy in MECP2-mutated patients with the
Zappella variant of Rett syndrome. CLINICAL NEUROPHYSIOLOGY, ISSN:
1388-2457
|