Published in Arch Dermatol on September 01, 2004
Spinal ultrasound in patients with anorectal malformations: is this the end of an era? Pediatr Surg Int (2014) 1.53
Spinal dermal sinus and pseudo-dermal sinus tracts: two different entities. Childs Nerv Syst (2010) 1.03
International survey on the management of skin stigmata and suspected tethered cord. Childs Nerv Syst (2010) 0.88
Distribution of affected muscles and degree of neurogenic lesion in patients with spina bifida. Arch Med Sci (2011) 0.82
Child with a tail. APSP J Case Rep (2013) 0.78
The simple sacral dimple: diagnostic yield of ultrasound in neonates. Pediatr Radiol (2014) 0.76
Recurrent meningitis in a child due to an occult spinal lesion. CMAJ (2006) 0.76
Cervical dermal sinus complicated with intramedullary abscess in a child: case report and review of literature. Eur Spine J (2013) 0.76
When good is not good enough: the predictive value of cutaneous lesions of the lumbosacral region for occult spinal dysraphism. Arch Dermatol (2004) 0.75
Gluteal pseudophallus in a male child: A rare cutaneous marker of occult spinal dysraphism. J Pediatr Neurosci (2009) 0.75
Cutaneous stigmata of occult spinal dysraphism. J Neonatal Surg (2013) 0.75
A True Human Tail in a Neonate: Case report and literature review. Sultan Qaboos Univ Med J (2017) 0.75
Gender and morphogenetic variability of patients with spina bifida occulta and spina bifida aperta: prospective population-genetic study. Hippokratia (2012) 0.75
Sacrococcygeal dimple: new classification and relationship with spinal lesions. Childs Nerv Syst (2013) 0.75
Prenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery. Childs Nerv Syst (2017) 0.75
Magnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences. J Clin Diagn Res (2017) 0.75
Surgical management of lipomyelomeningocele in children: Challenges and considerations. Surg Neurol Int (2017) 0.75
Spinal dysraphism associated with the cutaneous lumbosacral infantile hemangioma: a neuroradiological review. Pediatr Radiol (2011) 0.75
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science (2011) 6.19
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Stereotactic biopsy of diffuse pontine lesions in children. J Neurosurg (2007) 3.66
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol (2009) 2.94
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
Pediatric craniopharyngiomas: classification and treatment according to the degree of hypothalamic involvement. J Neurosurg (2007) 2.74
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36
Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol (2003) 2.29
Ophthalmologic findings in suspected child abuse victims with subdural hematomas. Ophthalmology (2003) 2.27
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med (2006) 2.18
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood (2003) 2.11
Abnormal cortical voice processing in autism. Nat Neurosci (2004) 2.11
Hypothalamic-pituitary lesions in pediatric patients: endocrine symptoms often precede neuro-ophthalmic presenting symptoms. J Pediatr (2012) 2.02
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology (2004) 1.98
Cutaneous hematologic disorders in children. Pediatr Blood Cancer (2011) 1.95
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest (2003) 1.92
Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): a retrospective study of 104 patients. Brain (2003) 1.85
Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood (2007) 1.84
Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum (2010) 1.75
Autism, the superior temporal sulcus and social perception. Trends Neurosci (2006) 1.73
Efficacy and safety of tacrolimus ointment compared with that of hydrocortisone acetate ointment in children with atopic dermatitis. J Allergy Clin Immunol (2002) 1.71
Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis (2011) 1.63
Presence of chimeric maternally derived keratinocytes in cutaneous inflammatory diseases of children: the example of pityriasis lichenoides. J Invest Dermatol (2006) 1.58
Preoperative chemotherapy in children with high-risk medulloblastomas: a feasibility study. J Neurosurg (2005) 1.56
Chiari malformation in craniosynostosis. Childs Nerv Syst (2005) 1.56
Clinical features and management of arterial hypertension in children with Williams-Beuren syndrome. Nephrol Dial Transplant (2009) 1.51
Mortality in children with severe head trauma: predictive factors and proposal for a new predictive scale. Neurosurgery (2010) 1.50
Multiple bur hole surgery for the treatment of moyamoya disease in children. J Neurosurg (2006) 1.50
Iterative reconstruction methods in two different MDCT scanners: physical metrics and 4-alternative forced-choice detectability experiments--a phantom approach. Phys Med (2012) 1.50
Neurenteric cysts in children: 16 consecutive cases and review of the literature. J Neurosurg (2005) 1.48
Safety and accuracy of 64-slice computed tomography coronary angiography in children after the arterial switch operation for transposition of the great arteries. JACC Cardiovasc Imaging (2008) 1.47
Cerebral MR imaging in uninfected children born to HIV-seropositive mothers and perinatally exposed to zidovudine. AJNR Am J Neuroradiol (2005) 1.43
Factors influencing the complication rate of subduroperitoneal shunt placement for the treatment of subdural hematomas in infants. J Neurosurg (2007) 1.43
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol (2002) 1.42
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat (2011) 1.42
Cerebral haemorrhagic risk in children with sickle-cell disease. Dev Med Child Neurol (2014) 1.40
Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children. Dev Med Child Neurol (2013) 1.40
Classification of venous malformations in children and implications for sclerotherapy. Pediatr Radiol (2002) 1.38
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet (2002) 1.36
Clinical spectrum of tufted angiomas in childhood: a report of 13 cases and a review of the literature. Arch Dermatol (2010) 1.35
Haemangioma family burden: creation of a specific questionnaire. Acta Derm Venereol (2015) 1.34
Progression-free survival in children with optic pathway tumors: dependence on age and the quality of the response to chemotherapy--results of the first French prospective study for the French Society of Pediatric Oncology. J Clin Oncol (2003) 1.33
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore) (2012) 1.31
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat (2008) 1.31
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet (2009) 1.31
Perception of complex sounds in autism: abnormal auditory cortical processing in children. Am J Psychiatry (2004) 1.30
Late plasticity for language in a child's non-dominant hemisphere: a pre- and post-surgery fMRI study. Brain (2002) 1.29
Long-term management of atopic dermatitis in infants with topical pimecrolimus, a nonsteroid anti-inflammatory drug. J Allergy Clin Immunol (2002) 1.29
Conservative management of asymptomatic spinal lipomas of the conus. Neurosurgery (2004) 1.29
Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. J Nucl Med (2005) 1.26
Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr (2003) 1.25
Perception of complex sounds: abnormal pattern of cortical activation in autism. Am J Psychiatry (2003) 1.25
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Hum Mutat (2011) 1.22
Efficacy and safety of pimecrolimus cream in the long-term management of atopic dermatitis in children. Pediatrics (2002) 1.22
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics (2002) 1.21
Congenital hyperinsulinism. Early Hum Dev (2010) 1.21
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. J Invest Dermatol (2006) 1.20
Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis (2011) 1.16
Ependymoma in childhood: prognostic factors, extent of surgery, and adjuvant therapy. J Neurosurg (2002) 1.14
Neonatal cancer. Lancet Oncol (2013) 1.13
Cutaneous adverse events in renal transplant recipients receiving sirolimus-based therapy. Transplantation (2005) 1.11
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. Eur J Med Genet (2007) 1.11
Propranolol for treatment of ulcerated infantile hemangiomas. J Am Acad Dermatol (2011) 1.10
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. Eur J Pediatr (2002) 1.10
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet (2003) 1.10
Expansion of regulatory T cells in patients with Langerhans cell histiocytosis. PLoS Med (2007) 1.10
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. Hum Mutat (2008) 1.08
Thalamic tumors in children: a reappraisal. J Neurosurg (2007) 1.07
Endoscopic third ventriculostomy in patients with cerebrospinal fluid infection and/or hemorrhage. J Neurosurg (2002) 1.07
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutat (2013) 1.07
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. Eur J Hum Genet (2003) 1.06
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. J Med Genet (2009) 1.06
Mortality in severe traumatic brain injury. Lancet Neurol (2013) 1.06
Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis (2014) 1.05
Syndromic (phenotypic) diarrhea in early infancy. Orphanet J Rare Dis (2008) 1.05
Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. Diabetes Care (2011) 1.04
Long-term treatment of atopic dermatitis with pimecrolimus cream 1% in infants does not interfere with the development of protective antibodies after vaccination. J Am Acad Dermatol (2005) 1.03
A clinical, histologic, and molecular study of 9 cases of congenital dermatofibrosarcoma protuberans. Arch Dermatol (2007) 1.03