Phosphorylation of tyrosine residues on the epidermal growth factor (EGF) receptor (EGFr)
is an important early event in signal transduction, leading to cell replication for major human …

Lymphangiomyomatosis (LAM) is a rare disease, of unknown etiology, affecting women
almost exclusively. Lung transplantation is the only consistently effective therapy for LAM. …

The present study examined the interaction of four 3-hydroxy-3-methylglutaryl coenzyme A
reductase inhibitors (atorvastatin, lovastatin, and simvastatin in acid and lactone forms, and …

Purpose: The purpose of this study was to document the ability of single-nucleotide polymorphism
microarray to identify copy-neutral regions of homozygosity, demonstrate clinical utility …

Fanconi Anemia (FA) is an inherited bone marrow failure syndrome characterized by
congenital abnormalities, progressive marrow failure and predisposition to myelodysplastic …

Variable lung disease was documented in 2 infants with heterozygous TBX4 mutations; their
clinical presentations, pathology, and outcomes were distinct. These findings demonstrate …

We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental
delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, …

Background and Objectives Trastuzumab (Herceptin ® ) is a humanized monoclonal antibody
(mAb) that binds to the HER2 protein. PF-05280014 is being developed as a potential …

Genomic disorders and rare copy number abnormalities are identified in 15–25% of patients
with syndromic conditions, but their prevalence in individuals with isolated birth defects is …

It is well documented that among subgroups of B-cell acute lymphoblastic leukemia (B-ALL),
the genetic profile of the leukemic blasts has significant impact on prognosis and …