Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1996 • 2,983 citations

The TGF-beta superfamily: new members, new receptors, and new genetic tests of function in different organisms.

1994 • 1,950 citations

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

1994 • 1,589 citations

GDNF: a Potent Survival Factor for Motoneurons Present in Peripheral Nerve and Muscle

1994 • 1,261 citations

Renal and neuronal abnormalities in mice lacking GDNF

1996 • 1,260 citations

Renal agenesis and the absence of enteric neurons in mice lacking GDNF

1996 • 1,208 citations

GDNF–Induced Activation of the Ret Protein Tyrosine Kinase Is Mediated by GDNFR-α, a Novel Receptor for GDNF

1996 • 1,170 citations

Defects in enteric innervation and kidney development in mice lacking GDNF

1996 • 1,169 citations

Characterization of a multicomponent receptor for GDNF

1996 • 1,086 citations

A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

1994 • 886 citations

GDNF signalling through the Ret receptor tyrosine kinase

1996 • 809 citations

Functional receptor for GDNF encoded by the c-ret proto-oncogene

1996 • 795 citations

Mutations of the RET proto-oncogene in Hirschsprung's disease

1994 • 751 citations

Genetic Analysis of Autoimmune Disease

1996 • 739 citations

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

1994 • 702 citations

Developing motor neurons rescued from programmed and axotomy-induced cell death by GDNF

1995 • 686 citations

In vivo neurotrophic effects of GDNF on neonatal and adult facial motor neurons

1995 • 593 citations

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

1996 • 449 citations

Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.

1988 • 434 citations

A genetic study of Hirschsprung disease.

1990 • 426 citations

Common origin and developmental dependence on c-ret of subsets of enteric and sympathetic neuroblasts

1996 • 409 citations

GDNF is an age-specific survival factor for sensory and autonomic neurons

1995 • 401 citations

Hirschsprung's disease

1982 • 401 citations

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

1995 • 311 citations

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

1996 • 303 citations

Fibroblast-growth-factor receptor mutations in human skeletal disorders

1995 • 300 citations

Structural and Functional Properties of the TRK Family of Neurotrophin Receptors

1995 • 268 citations

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene

1994 • 246 citations

Embryonic expression of glial cell-line derived neurotrophic factor (GDNF) suggests multiple developmental roles in neural differentiation and epithelial-mesenchymal interactions

1996 • 245 citations

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

1994 • 243 citations

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1995 • 243 citations

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

1993 • 190 citations

RET mutations in human disease

1996 • 173 citations

A family study of Hirschsprung's disease

1963 • 171 citations

Glial cell line-derived neurotrophic factor (GDNF), a new neurotrophic factor for motoneurones

1994 • 167 citations

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

1993 • 157 citations

Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.

1995 • 114 citations

Heterogeneity and Low Detection Rate of RET Mutations in Hirschsprung Disease

1994 • 67 citations

Hirschsprungʼs Disease

1981 • 47 citations

Therapeutic Potentials for Glial Cell Line-Derived Neurotrophic Factor (GDNF) Based upon Pharmacological Activities in the CNS

1996 • 46 citations

The Gene Coding for Glial Cell Line Derived Neurotrophic Factor (GDNF) Maps to Chromosome 5p12-p13.1

1995 • 26 citations

Human glial cell line-derived neurotrophic factor (GDNF) maps to chromosome 5

1995 • 19 citations

Class migration and the schizophrenic polymorphism

1964 • 8 citations

Intercellular Signalling: The pros and cons of c-ret

1994 • 1 citations