Published in J Med Genet on January 27, 2006
Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene. Proc Natl Acad Sci U S A (2007) 1.29
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A (2009) 1.17
Genetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung's disease. Neurogastroenterol Motil (2009) 1.07
Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease. Hum Mol Genet (2010) 1.06
Genetic interactions and modifier genes in Hirschsprung's disease. World J Gastroenterol (2011) 0.99
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease. Pediatr Surg Int (2012) 0.85
Differential expression of FOXA1, DUSP6, and HA117 in colon segments of Hirschsprung's disease. Int J Clin Exp Pathol (2015) 0.78
PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature. Eur J Pediatr (2011) 0.77
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature (1994) 5.61
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature (2005) 4.92
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature (1999) 3.77
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency. Development (2002) 2.88
Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet (2001) 2.32
Phox2 genes - from patterning to connectivity. Curr Opin Genet Dev (2002) 2.20
Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET. Neuron (2003) 1.98
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet (2004) 1.98
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J Med Genet (2004) 1.91
Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome. Am J Hum Genet (2003) 1.88
Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways. Development (2003) 1.84
Mowat-Wilson syndrome. J Med Genet (2003) 1.75
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A (2003) 1.74
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum Mol Genet (2001) 1.58
Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. Hum Mol Genet (2005) 1.48
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet (2005) 1.47
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet (2005) 1.41
The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest (2005) 1.36
Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci U S A (2003) 1.30
Congenital central hypoventilation syndrome: an update. Pediatr Pulmonol (1998) 1.27
Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease. Hum Mol Genet (2005) 1.13
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am J Hum Genet (2001) 1.11
Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child (1998) 1.11
PMX2B, a new candidate gene for Hirschsprung's disease. Clin Genet (2003) 0.91
Mutations of the RET-GDNF signaling pathway in Ondine's curse. Am J Hum Genet (1998) 0.89
Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. Hum Mol Genet (2004) 0.88
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease. J Med Genet (2005) 0.84
Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. Am J Med Genet (1996) 0.83
Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome. Pediatrics (1998) 0.80
Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients. J Med Genet (2003) 0.80
Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. Tohoku J Exp Med (2002) 0.77
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging. Mamm Genome (1999) 9.96
Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet (1997) 6.08
Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta (1994) 4.93
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet (1997) 4.92
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet (1997) 4.26
Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet (2007) 4.13
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet (1999) 3.93
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet (2001) 3.86
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature (1999) 3.77
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature (2000) 3.61
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet (1996) 3.51
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet (1997) 3.37
Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.33
Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr (1997) 3.14
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet (1990) 3.12
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet (1995) 3.09
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet (1989) 2.98
Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development (1997) 2.91
The bHLH protein NEUROGENIN 2 is a determination factor for epibranchial placode-derived sensory neurons. Neuron (1998) 2.87
Neural cell adhesion molecules and myelin-associated glycoprotein share a common carbohydrate moiety recognized by monoclonal antibodies L2 and HNK-1. Nature (1984) 2.78
Association between the tryptophan hydroxylase gene and manic-depressive illness. Arch Gen Psychiatry (1998) 2.55
Mutant WD-repeat protein in triple-A syndrome. Nat Genet (2000) 2.54
An IgG monoclonal antibody to group B meningococci cross-reacts with developmentally regulated polysialic acid units of glycoproteins in neural and extraneural tissues. J Immunol (1987) 2.54
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology (2002) 2.53
Leber congenital amaurosis. Mol Genet Metab (1999) 2.52
Occurrence of alpha 2-8 linked polysialosyl units in a neural cell adhesion molecule. Biochem Biophys Res Commun (1983) 2.48
Inhibition of murine T cell-mediated cytolysis and T cell proliferation by a rat monoclonal antibody immunoprecipitating two lymphoid cell surface polypeptides of 94 000 and 180 000 molecular weight. Eur J Immunol (1982) 2.47
Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births. Am J Med Genet (1994) 2.40
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet (1997) 2.38
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. J Med Genet (2009) 2.37
Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet (2001) 2.32
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet (1998) 2.30
Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat Genet (1996) 2.29
Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet (1990) 2.26
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet (2003) 2.26
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet (2005) 2.24
Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int (2000) 2.20
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet (1999) 2.18
Structure and organization of the human survival motor neurone (SMN) gene. Genomics (1996) 2.12
Adult and embryonic mouse neural cell adhesion molecules have different binding properties. Nature (1983) 2.04
The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol (1998) 2.04
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet (1996) 2.01
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J Med Genet (2005) 2.00
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet (2001) 2.00
A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet (2000) 2.00
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet (1998) 1.97
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet (1994) 1.97
Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis. Prenat Diagn (2001) 1.95
Tissue- and developmental stage-specific forms of a neural cell surface antigen linked to differences in glycosylation of a common polypeptide. EMBO J (1982) 1.92
Unidirectional replication in Escherichia coli of three small plasmids derived from R factor R12. Plasmid (1977) 1.91
The mouse homeodomain protein Phox2 regulates Ncam promoter activity in concert with Cux/CDP and is a putative determinant of neurotransmitter phenotype. Development (1993) 1.87
True hermaphroditism: genetic variants and clinical management. J Pediatr (1994) 1.84
Isolation and nucleotide sequence of mouse NCAM cDNA that codes for a Mr 79,000 polypeptide without a membrane-spanning region. EMBO J (1987) 1.83
Estimating the age of rare disease mutations: the example of Triple-A syndrome. J Med Genet (2004) 1.82
FGFR2 mutations in Pfeiffer syndrome. Nat Genet (1995) 1.82
Temsirolimus safety profile and management of toxic effects in patients with advanced renal cell carcinoma and poor prognostic features. Ann Oncol (2008) 1.82
Dendritic cells are early cellular targets of Listeria monocytogenes after intestinal delivery and are involved in bacterial spread in the host. Cell Microbiol (2001) 1.81
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet (2005) 1.80
Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes. Eur Heart J (1998) 1.79
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet (1993) 1.79
Molecular forms of N-CAM and its RNA in developing and denervated skeletal muscle. J Cell Biol (1986) 1.79
Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role. Histopathology (1998) 1.78
Phosphatidylinositol is involved in the membrane attachment of NCAM-120, the smallest component of the neural cell adhesion molecule. EMBO J (1986) 1.77
Differential exon usage involving an unusual splicing mechanism generates at least eight types of NCAM cDNA in mouse brain. EMBO J (1989) 1.76
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A (2000) 1.76
Genome screen for asthma and related phenotypes in the French EGEA study. Am J Respir Crit Care Med (2000) 1.75
Genetic deletion of a neural cell adhesion molecule variant (N-CAM-180) produces distinct defects in the central nervous system. Neuron (1993) 1.74
Renal coloboma syndrome. Ophthalmology (2001) 1.74
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) J Clin Invest (2000) 1.72
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet (1998) 1.72
Studies on the transmembrane disposition of the neural cell adhesion molecule N-CAM. A monoclonal antibody recognizing a cytoplasmic domain and evidence for the presence of phosphoserine residues. Eur J Biochem (1984) 1.71
CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics (1989) 1.70
CHARGE syndrome: report of 47 cases and review. Am J Med Genet (1998) 1.68