User profiles for "author:Alison May"

Alison J. May

Assistant Professor, Icahn School of Medicine at Mount Sinai
Verified email at mssm.edu
Cited by 455

The accuracy of academic self-evaluations in adolescents with learning disabilities

CA Stone, AL May - Journal of learning disabilities, 2002 - journals.sagepub.com
The purpose of this study was to document the degree of overestimation of academic skills
among students with learning disabilities (LD) and to evaluate the role of reference group …

Stereotypes of individuals with learning disabilities: Views of college students with and without learning disabilities

AL May, CA Stone - Journal of learning disabilities, 2010 - journals.sagepub.com
To explore possible reasons for low self-identification rates among undergraduates with
learning disabilities (LD), we asked students (38 with LD, 100 without LD) attending two …

The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia

A May, DF Bishop - Haematologica, 1998 - haematologica.org
Pyridoxine-responsive, X-linked sideroblastic anaemia (XLSA) has been shown to be
caused by missense mutations in the erythroid-specific ALA synthase gene, ALAS2. These …

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

PK Chakraborty, K Schmitz-Abe… - Blood, The Journal …, 2014 - ashpublications.org
Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis,
iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been …

[HTML][HTML] EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

J Traeger-Synodinos, CL Harteveld, JM Old… - European Journal of …, 2015 - nature.com
Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide,
and the treatment of affected individuals presents a substantial global disease burden …

SOX2 regulates acinar cell development in the salivary gland

E Emmerson, AJ May, S Nathan, N Cruz-Pacheco… - Elife, 2017 - elifesciences.org
Acinar cells play an essential role in the secretory function of exocrine organs. Despite this
requirement, how acinar cells are generated during organogenesis is unclear. Using the …

Salivary glands regenerate after radiation injury through SOX2‐mediated secretory cell replacement

E Emmerson, AJ May, L Berthoin… - EMBO molecular …, 2018 - embopress.org
Salivary gland acinar cells are routinely destroyed during radiation treatment for head and
neck cancer that results in a lifetime of hyposalivation and co‐morbidities. A potential …

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

DH Wiseman, A May, S Jolles, P Connor… - Blood, The Journal …, 2013 - ashpublications.org
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders
identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition …

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

MA Cousin, BA Creighton, KA Breau, RC Spillmann… - Nature …, 2021 - nature.com
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-
scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin …

Diverse progenitor cells preserve salivary gland ductal architecture after radiation-induced damage

AJ May, N Cruz-Pacheco, E Emmerson… - …, 2018 - journals.biologists.com
The ductal system of the salivary gland has long been postulated to be resistant to radiation-
induced damage, a common side effect incurred by head and neck cancer patients receiving …