New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases).

A late-recognized Currarino syndrome in an adult revealed by an anal fistula. Int J Surg Case Rep (2014) 0.90

"This bicycle gives me a headache", a congenital anomaly. BMC Res Notes (2013) 0.87

Congenital funnel anus in children: associated anomalies, surgical management and outcome. Pediatr Surg Int (2007) 0.87

Atypical extragonadal germ cell tumors. J Indian Assoc Pediatr Surg (2012) 0.85

Extreme hypoglycorrhachia: not always bacterial meningitis. Nat Rev Neurol (2010) 0.77

Currarino triad with Müllerian duct anomaly in mother and daughter without MNX1 gene mutation. Ann Surg Treat Res (2015) 0.75

[A rectovaginal fistula within the scope of a Currarino syndrome]. Pan Afr Med J (2011) 0.75

Long-term functional outcomes in children with Currarino syndrome. Pediatr Surg Int (2010) 0.75

Monitoring of blood vessels and tissues by a population of monocytes with patrolling behavior. Science (2007) 9.54

Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature (2008) 5.32

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42

Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96

miR-122, a paradigm for the role of microRNAs in the liver. J Hepatol (2008) 2.61

Guidelines for imaging and staging of neuroblastic tumors: consensus report from the International Neuroblastoma Risk Group Project. Radiology (2011) 2.35

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet (2010) 2.12

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet (2007) 2.03

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology (2004) 1.98

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet (2004) 1.98

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet (2007) 1.86

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79

BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism. J Clin Endocrinol Metab (2002) 1.72

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62

Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism? Am J Med Genet A (2005) 1.61

Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat (2011) 1.54

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat (2014) 1.53

Attenuated virulence of Streptococcus agalactiae deficient in D-alanyl-lipoteichoic acid is due to an increased susceptibility to defensins and phagocytic cells. Mol Microbiol (2003) 1.53

Cerebral microcirculation shear stress levels determine Neisseria meningitidis attachment sites along the blood-brain barrier. J Exp Med (2006) 1.51

Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J Urol (2008) 1.50

Nuclear outsourcing of RNA interference components to human mitochondria. PLoS One (2011) 1.49

Use of bovine jugular vein to reconstruct the right ventricular outflow tract: early results. J Thorac Cardiovasc Surg (2003) 1.46

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45

Study of the impact of liver transplantation on the outcome of intestinal grafts in children. Transplantation (2006) 1.44

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat (2011) 1.42

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet (2005) 1.41

DOR-1, A novel CD10+ stromal cell line derived from progressive Langerhans cell histiocytosis of bone. Pediatr Blood Cancer (2005) 1.41

Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay. Clin Dysmorphol (2009) 1.38

Inflammatory myofibroblastic tumor in children: clinical review with anaplastic lymphoma kinase, Epstein-Barr virus, and human herpesvirus 8 detection analysis. J Pediatr Surg (2005) 1.37

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet (2011) 1.34

TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat (2009) 1.28

The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet (2007) 1.28

Molecular bases of human neurocristopathies. Adv Exp Med Biol (2006) 1.26

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat (2011) 1.26

Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. J Nucl Med (2005) 1.26

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet (2006) 1.24

C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet (2013) 1.24

Polyalanine expansions in human. Hum Mol Genet (2004) 1.23

Human neural crest cells display molecular and phenotypic hallmarks of stem cells. Hum Mol Genet (2008) 1.23

Aetiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr (2002) 1.22

Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling. BMC Genomics (2009) 1.22

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet (2013) 1.22

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat (2014) 1.21

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21

Congenital hyperinsulinism. Early Hum Dev (2010) 1.21

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum Mol Genet (2005) 1.20

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet (2002) 1.19

Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Hum Gene Ther (2014) 1.19

Listeria monocytogenes-infected bone marrow myeloid cells promote bacterial invasion of the central nervous system. Cell Microbiol (2005) 1.19

Molecular genetics of sex determination. Semin Reprod Med (2002) 1.18

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A (2009) 1.17

Wandering spleen in children: multicenter retrospective study. J Pediatr Surg (2010) 1.16

Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr (2006) 1.16

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet (2008) 1.16

Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis (2011) 1.16

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model. Dev Biol (2013) 1.15

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. Am J Respir Crit Care Med (2007) 1.14

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14

Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res (2006) 1.13

Neonatal cancer. Lancet Oncol (2013) 1.13

Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions. RNA (2008) 1.13

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet (2013) 1.12

Constitutively active Akt1 expression in mouse pancreas requires S6 kinase 1 for insulinoma formation. J Clin Invest (2008) 1.11

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome". Hum Mutat (2010) 1.11

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet (2012) 1.10

Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab (2005) 1.10

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. Eur J Pediatr (2002) 1.10

ActA is required for crossing of the fetoplacental barrier by Listeria monocytogenes. Infect Immun (2006) 1.10

Expansion of regulatory T cells in patients with Langerhans cell histiocytosis. PLoS Med (2007) 1.10

Aberrant expression of ovary determining gene FOXL2 in the testis and juvenile granulosa cell tumor in children. J Urol (2008) 1.08

Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A (2004) 1.08

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions. Eur J Hum Genet (2011) 1.08

Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates. Endocrinology (2009) 1.07

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet (2012) 1.07

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet (2013) 1.06

The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. Diabetes (2003) 1.06

Outcome of suprarenal localized masses diagnosed during the perinatal period: a retrospective multicenter study. Cancer (2002) 1.05

Paraesophageal bronchogenic cyst: first case reports in pediatric. Pediatr Surg Int (2006) 1.04

Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. Diabetes Care (2011) 1.04

Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatr Res (2008) 1.04