A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

…, Y Lu, RM Chiavacci, CA Stanley, SE Kirsch… - Nature, 2007 - nature.com
Type 1 diabetes (T1D) in children results from autoimmune destruction of pancreatic beta
cells, leading to insufficient production of insulin 1 . A number of genetic determinants of T1D …

Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes

…, RW Grundmeier, CA Stanley, SE Kirsch… - Diabetes, 2009 - Am Diabetes Assoc
OBJECTIVE—Two recent genome-wide association (GWA) studies have revealed novel loci
for type 1 diabetes, a common multifactorial disease with a strong genetic component. To …

A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study

…, RM Chiavacci, LJ Robinson, CA Stanley, SE Kirsch… - Diabetes, 2008 - Am Diabetes Assoc
OBJECTIVE—In stage 1 of our genome-wide association (GWA) study for type 1 diabetes,
one locus at 16p13 was detected (P = 1.03 × 10 −10 ) and confirmed in two additional cohorts. …

Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium

…, J Argente, P Bang, W Högler, S Kirsch… - The Journal of …, 2010 - academic.oup.com
Context: To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency
have been reported. The impact of heterozygosity for IGFALS mutations on growth is …

GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in KISS1/Kiss1

…, IH Wu, F Wahab, A Dwyer, S Kirsch… - The Journal of …, 2011 - academic.oup.com
Context: KISS1 is a candidate gene for GnRH deficiency. Objective: Our objective was to
identify deleterious mutations in KISS1. Patients and Methods: DNA sequencing and …

Fear of hypoglycemia in children with type 1 diabetes and their parents: Effect of pump therapy and continuous glucose monitoring with option of low glucose suspend …

…, BJ Bradley, K McAssey, C Clarson, S Kirsch… - Pediatric …, 2021 - Wiley Online Library
To determine if pump therapy with continuous glucose monitoring offering low glucose
suspend (LGS) decreases fear of hypoglycemia among children with type 1 diabetes and their …

Neuromuscular approach to the motor deficits of cerebral palsy: a pilot study

KE Pape, SE Kirsch, A Galil, JE Boulton… - Journal of Pediatric …, 1993 - journals.lww.com
Six children with mild cerebral palsy (CP) entered a study of overnight low-intensity
transcutaneous electrical stimulation (ES) to the leg muscles. After 6 months, statistically significant …

Screening and treatment outcomes in adults and children with type 1 diabetes and asymptomatic celiac disease: the CD-DIET study

…, P Bercik, RL Houlden, R Aronson, SE Kirsch… - Diabetes …, 2020 - Am Diabetes Assoc
OBJECTIVE To describe celiac disease (CD) screening rates and glycemic outcomes of a
gluten-free diet (GFD) in patients with type 1 diabetes who are asymptomatic for CD. …

Depletion and sizes of motor units in spinal muscular atrophy

V Galea, D Fehlings, S Kirsch, A McComas - Muscle & nerve, 2001 - Wiley Online Library
Motor unit number estimation (MUNE) was applied to the biceps brachii muscles of 13 young
patients (age 5–24 years) with spinal muscular atrophy (SMA) and the results compared …

Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype?

…, R Grabs, SP Taback, ML Lawson, SE Kirsch… - Journal of Medical …, 2006 - jmg.bmj.com
Background: The 2′,5′-oligoadenylate synthetase genes (OAS1, OAS2, and OAS3) map
to human chromosome 12q24 and encode a family of enzymes pivotal to innate antiviral …