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Journal Articles

Detection of Familial Pseudohyperkalemia Among Italian Blood Donors By Genetic Screening for the R276W Mutation in ABCB6

Immacolata Andolfo, Roberta Russo, Francesco Manna, Marica Lisa Salve, Alok K. Sharma, Seth L. Alper, Lucia De Franceschi, MD, Achille Iolascon, MD PhD
Journal: Blood
Blood (2015) 126 (23): 2132.
https://doi.org/10.1182/blood.V126.23.2132.2132
Published: 2015
Journal Articles

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Immacolata Andolfo, Seth L. Alper, Lucia De Franceschi, Carla Auriemma, Roberta Russo, Luigia De Falco, Fara Vallefuoco, Maria Rosaria Esposito, David H. Vandorpe, Boris E. Shmukler, Rupa Narayan, Donatella Montanaro, Maria D’Armiento, Annalisa Vetro, Ivan Limongelli, Orsetta Zuffardi, Bertil E. Glader, Stanley L. Schrier, Carlo Brugnara, Gordon W. Stewart, Jean Delaunay, Achille Iolascon
Journal: Blood
Blood (2013) 121 (19): 3925–3935.
https://doi.org/10.1182/blood-2013-02-482489
Published: 2013
Includes: Supplemental data
Journal Articles

Missense Mutations in the ABCB6 Transporter Cause Dominant Familial Pseudohyperkalemia

Immacolata Andolfo, Seth Alper, MD, PhD, Jean Delaunay, Carla Auriemma, Roberta Russo, Maria Rosaria Esposito, Alok K. Sharma, Boris E Shmukler, David H Vandorpe, Carlo Brugnara, M.D., Lucia De Franceschi, MD, Achille Iolascon, MD, PhD
Journal: Blood
Blood (2012) 120 (21): 3184.
https://doi.org/10.1182/blood.V120.21.3184.3184
Published: 2012
Journal Articles

Pseudonormokalemia in Patients with Thrombocytosis.

Raimonda Goldman, Amir Steinberg, MD, Jennifer Carreiro, MD, Georgia Panagopoulos, Marvin Cooper, MD, Randy L. Levine, MD
Journal: Blood
Blood (2009) 114 (22): 2420.
https://doi.org/10.1182/blood.V114.22.2420.2420
Published: 2009
Journal Articles

BAND 3CEINGE (Gly796Arg) Mutation Causes Dehydrated Hereditary Stomatocytosis (DHS) with Dyserythropoietic Phenotype

Luigia De Falco, Lucia De Franceschi, Frank Borgese, Carmelo Piscopo, Maria Rosaria Esposito, Rosa Anna Avvisati, Pietro Izzo, Helene Guizouarn, Andrea Biondani, Achille Iolascon, MD, PhD
Journal: Blood
Blood (2008) 112 (11): 2874.
https://doi.org/10.1182/blood.V112.11.2874.2874
Published: 2008
Journal Articles

Spontaneous Resolution of Extreme Essential Thrombocytosis in a Child

Shraga Aviner, MD, PhD, Menachem Schlesinger, MD, Gilles Lugassy, MD
Journal: Blood
Blood (2008) 112 (11): 4563.
https://doi.org/10.1182/blood.V112.11.4563.4563
Published: 2008
Journal Articles

Pseudonormokalemia in Patients with Thrombocytosis.

Amir S. Steinberg, MD, Raimonda Goldman, D.O., Randy L. Levine, M.D., Georgia Panagopoulos, M.D., Marvin C. Cooper, M.D.
Journal: Blood
Blood (2006) 108 (11): 3964.
https://doi.org/10.1182/blood.V108.11.3964.3964
Published: 2006
Journal Articles

Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24

Sabine Grootenboer, Pierre-Olivier Schischmanoff, Ingrid Laurendeau, Thérèsa Cynober, Gil Tchernia, Jean-Paul Dommergues, Didier Dhermy, Mireille Bost, Bruno Varet, Michael Snyder, Samir K. Ballas, Béatrice Ducot, Marie-Claude Babron, Gordon W. Stewart, Paolo Gasparini, Achille Iolascon, Jean Delaunay
Journal: Blood
Blood (2000) 96 (7): 2599–2605.
https://doi.org/10.1182/blood.V96.7.2599
Published: 2000
Journal Articles

Familial Pseudohyperkalemia Maps to the Same Locus as Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis)

A. Iolascon, G.W. Stewart, J.F. Ajetunmobi, S. Perrotta, J. Delaunay, M. Carella, L. Zelante, P. Gasparini
Journal: Blood
Blood (1999) 93 (9): 3120–3123.
https://doi.org/10.1182/blood.V93.9.3120
Published: 1999