Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

IGF1R mutations as cause of SGA

(2011) J. Klammt et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

(2011) Isabel Huang-Doran et al.   DIABETES

Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R)

(2011) Peng Fang et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A case of severe growth retardation, probably Seckel syndrome

(2010) Cristina Dumitrescu   Acta Endocrinologica-Bucharest

Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype

(2010) Michael B. Bober et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GIPC mediates the generation of reactive oxygen species and the regulation of cancer cell proliferation by insulin-like growth factor-1/IGF-1R signaling

(2010) Ji Seung Choi et al.   CANCER LETTERS

A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation

(2010) Tillmann Wallborn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation

(2010) Tassilo Kruis et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Targeting GIPC/Synectin in Pancreatic Cancer Inhibits Tumor Growth

(2009) M. H. Muders et al.   CLINICAL CANCER RESEARCH

Pericentrin in cellular function and disease

(2009) Benedicte Delaval et al.   JOURNAL OF CELL BIOLOGY

Familial Short Stature Caused by Haploinsufficiency of the Insulin-Like Growth Factor I Receptor due to Nonsense-Mediated Messenger Ribonucleic Acid Decay

(2009) Peng Fang et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

(2009) M. Willems et al.   JOURNAL OF MEDICAL GENETICS

Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations

(2009) James S. Waldron et al.   Journal of Neurosurgery-Pediatrics

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE