DOCTORATE in GENETICS, ONCOLOGY and CLINICAL MEDICINE (GenOMeC)
DOTTORATO DI RICERCA IN
GENETICA ONCOLOGIA E MEDICINA CLINICA
UNIVERSITA' DEGLI STUDI DI SIENA
Home Page |
Publications
during the PhD program |
|
Katzaki Eleni |
|
1)
MECP2 deletions and genotype-phenotype correlation
in Rett syndrome.
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.
Am J Med Genet A. 2007 Dec 1;143A(23):2775-84. |
|
2)
Clinical and molecular characterization of Italian
patients affected by Cohen syndrome.
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.
J Hum Genet.
2007;52(12):1011-7. Epub 2007 Nov 8. Erratum in: J Hum Genet. 2008
Mar;53(3):285. |
|
3)
A 3 Mb deletion in 14q12 causes severe mental
retardation, mild facial dysmorphisms and Rett-like features.
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.
Am J Med Genet A. 2008 Aug 1;146A(15):1994-8. |
|
4)
Cohen syndrome resulting from a novel large
intragenic COH1 deletion segregating in an isolated Greek island
population.
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.
Am J Med Genet A. 2008 Sep 1;146A(17):2221-6. |
|
5)
Private inherited microdeletion/microduplications:
implications in clinical practice.
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.
Eur
J Med Genet. 2008 Sep-Oct;51(5):409-16. Epub 2008 Jul 9. |
|
6)
The XLMR gene ACSL4 plays a role in dendritic
spine architecture.
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.
Neuroscience. 2009
Mar 17;159(2):657-69. Epub 2008 Dec 24. |
|
7)
Array comparative genomic hybridization in
retinoma and retinoblastoma tissues.
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.
Cancer Sci. 2009
Mar;100(3):465-71. Epub 2009 Jan 29. |
|
8)
14q12 Microdeletion syndrome and congenital
variant of Rett syndrome.
Mencarelli MA, Kleefstra T, Katzaki E, Papa
FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A.
Eur
J Med Genet. 2009 Mar-Jun;52(2-3):148-52. Epub 2009 Mar 19. |
|
9)
A 9.3 Mb microdeletion of 3q27.3q29 associated
with psychomotor and growth delay, tricuspid valve dysplasia and
bifid thumb.
Pollazzon M, Grosso S, Papa FT, Katzaki E,
Marozza A, Mencarelli MA, Uliana V, Balestri P, Mari F, Renieri A.
Eur
J Med Genet. 2009 Mar-Jun;52(2-3):131-3. Epub 2009 Mar 24. |
|
10)
Is HSD17B1 a new sex reversal gene in human?
Katzaki E, Papa FT, Mucciolo M, Uliana V,
Renieri A.
Mol
Cell Endocrinol. 2009 Dec 10;313(1-2):70; author reply 71.
Epub 2009 Jul 28 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|