Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism

Primary structure and functional characterization of a high-affinity glutamate transporter

1992 • 1,319 citations

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

1997 • 1,107 citations

Mutations in PTF1A cause pancreatic and cerebellar agenesis

2004 • 431 citations

Genetics of congenital hypothyroidism

2005 • 401 citations

The Sonic Hedgehog–Patched–Gli Pathway in Human Development and Disease

2000 • 396 citations

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

2005 • 349 citations

Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration

1997 • 332 citations

Transgenic mice with green fluorescent protein-labeled pancreatic β-cells

2003 • 299 citations

Lack of TCF2/vHNF1 in mice leads to pancreas agenesis

2005 • 260 citations

Hedgehog signaling in pancreas development

2002 • 151 citations

GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions

2003 • 119 citations

The Hedgehog Signalling Pathway in the Gastrointestinal Tract: Implications for Development, Homeostasis, and Disease

2005 • 112 citations

Automated Identification of Single Nucleotide Polymorphisms from Sequencing Data

2003 • 92 citations

Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: A new autosomal recessive syndrome?

2003 • 76 citations

Characterization of Glis2, a Novel Gene Encoding a Gli-related, Krüppel-like Transcription Factor with Transactivation and Repressor Functions

2002 • 76 citations

Identification of Glis1, a Novel Gli-related, Krüppel-like Zinc Finger Protein Containing Transactivation and Repressor Functions

2002 • 72 citations

Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter

2005 • 16 citations

Congenital glaucoma in a child with partial lq duplication and 9p deletion

1992 • 15 citations

Primary Congenital Glaucoma in a Patient With Trisomy 2q(q33->qter) and Monosomy 9p(p24->pter)

1987 • 13 citations