Publications by authors named "Milena Cau"

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Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving and .
Giancarlo Mancuso, Marina Marsan, Paola Neroni, Consolata Soddu, Francesco Lai, Milena Cau

Genes (Basel)· February 2025

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Danon disease in a Sardinian family: different aspects of the same mutation-a case report.
Daniele Pasqualucci, Silvia Maiani, Ferdinando Perra, Milena Cau, Alessandra Coiana

Eur Heart J Case Rep· May 2023

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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Milena Cau

Front Genet· March 2020

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The V736A TMPRSS6 polymorphism influences liver iron concentration in nontransfusion-dependent thalassemias.
Milena Cau, Fabrice Danjou, Roberta Chessa, Marianna Serrenti, Maria Addis

Am J Hematol· December 2015

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Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene.
Marta Melis, Milena Cau, Simona Corraine, Simona Secci, Maria Addis

Cerebrovasc Dis· August 2015

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A new deletion in 5'-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers.
Milena Cau, Loredana Boccone, Anna Mateddu, Maria Addis, Marianna Serrenti

Gene· December 2012

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Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1.
Maria Addis, Marianna Serrenti, Cristiana Meloni, Milena Cau, Maria Antonietta Melis

Genet Test Mol Biomarkers· December 2012

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Responsiveness to oral iron and ascorbic acid in a patient with IRIDA.
Milena Cau, Renzo Galanello, Nicolina Giagu, Maria Antonietta Melis

Blood Cells Mol Dis· February 2012

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Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia.
Gérald Le Gac, Rita Congiu, Isabelle Gourlaouen, Milena Cau, Claude Férec

Haematologica· April 2010

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Iron-deficiency anemia secondary to mutations in genes controlling hepcidin.
Milena Cau, Maria Antonietta Melis, Rita Congiu, Renzo Galanello

Expert Rev Hematol· April 2010

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C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.
Milena Cau, Mario Loi, Maurizio Melis, Rita Congiu, Alberto Loi

Eur J Med Genet· November 2009

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A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.
Maria Antonietta Melis, Milena Cau, Rita Congiu, Gabriella Sole, Susanna Barella

Haematologica· October 2008

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Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3).
Anna Lisa Nucaro, Paola Melis, Maria Rosaria Casini, Rossano Rossino, Milena Cau

J Appl Genet· October 2008

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A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
Maria Addis, Cristiana Meloni, Rita Congiu, Simona Santaniello, Francesco Emma, Milena Cau

Eur J Med Genet· March 2007

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A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
Milena Cau, Maria Addis, Rita Congiu, Cristiana Meloni, Antonio Cao

J Hum Genet· January 2007

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OCRL mutation analysis in Italian patients with Lowe syndrome.
Maria Addis, Mario Loi, Carmen Lepiani, Milena Cau, Maria Antonietta Melis

Hum Mutat· May 2004

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Frequency of hemochromatosis C282Y and H63D mutations in Sardinia.
Maria Antonietta Melis, Milena Cau, Rita Congiu, Livia Ruvoletto, Antonio Cao

Genet Test· June 2003

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H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers.
Maria Antonietta Melis, Milena Cau, Federica Deidda, Susanna Barella, Antonio Cao

Haematologica· March 2002

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