Published in Am J Med Genet A on June 15, 2003
Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. Am J Hum Genet (2005) 1.09
Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region. BMC Med Genet (2014) 0.81
Cytogenetic and Molecular Genetic Characterization of Children with Short Stature. Zdr Varst (2015) 0.75
Prevalence of SHOX Haploinsufficiency among Short Statured Children. Pediatr Res (2016) 0.75
Efficacy and tolerability of add-on lacosamide in children with Lennox-Gastaut syndrome. Acta Neurol Scand (2014) 2.59
Elevated circulating levels of monocyte chemoattractant protein-1 in patients with restenosis after coronary angioplasty. Arterioscler Thromb Vasc Biol (2001) 2.53
Opioid overdose in a patient using a fentanyl patch during treatment with a warming blanket. Anesth Analg (2001) 2.39
Persistent differences among centers over 3 years in glycemic control and hypoglycemia in a study of 3,805 children and adolescents with type 1 diabetes from the Hvidøre Study Group. Diabetes Care (2001) 2.37
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology (2008) 2.37
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Prenatal diagnosis of severe structural congenital malformations in Europe. Ultrasound Obstet Gynecol (2005) 2.19
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr (1999) 2.18
Zinc sulfate supplementation improves thyroid function in hypozincemic Down children. Biol Trace Elem Res (1999) 2.03
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J Med Genet (2003) 2.03
Febrile convulsions after 5 years of age: long-term follow-up. J Child Neurol (2000) 2.02
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet (1999) 2.00
Limited joint mobility in children with type 1 diabetes mellitus. A critical review. J Pediatr Endocrinol Metab (1997) 1.94
Good metabolic control is associated with better quality of life in 2,101 adolescents with type 1 diabetes. Diabetes Care (2001) 1.88
Effect of photic stimulation on human visual cortex lactate and phosphates using 1H and 31P magnetic resonance spectroscopy. J Cereb Blood Flow Metab (1992) 1.86
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet (1995) 1.82
Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome. Epilepsia (2000) 1.80
Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am J Med Genet (1994) 1.73
Overexpression of functionally coupled cyclooxygenase-2 and prostaglandin E synthase in symptomatic atherosclerotic plaques as a basis of prostaglandin E(2)-dependent plaque instability. Circulation (2001) 1.72
Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes? Diabet Med (2008) 1.67
The phenotype of partial dup(7q) reconsidered: a report of five new cases. Clin Genet (1988) 1.54
Size of the pancreas in type I diabetic children and adolescents. Diabetes Care (1995) 1.53
Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. Pediatr Cardiol (1997) 1.52
Lack of correlation between clinical patterns of asthma and airway obstruction. Allergy Asthma Proc (2001) 1.49
Inositide-specific phospholipase c beta1 gene deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia. Leukemia (2004) 1.48
Italian cross-sectional growth charts for height, weight and BMI (6-20 y). Eur J Clin Nutr (2002) 1.46
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. Genes Chromosomes Cancer (1996) 1.45
Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations. J Neurol Neurosurg Psychiatry (2009) 1.41
Growth hormone neurosecretory dysfunction in a boy with hypohidrotic/anhidrotic ectodermal dysplasia: definition of short stature, molecular characterization and long-term hGH replacement treatment to final height. J Pediatr Endocrinol Metab (2009) 1.39
Noonan syndrome with cardiac left-sided obstructive lesions. Hum Genet (1997) 1.39
Effectiveness of a prevention program for diabetic ketoacidosis in children. An 8-year study in schools and private practices. Diabetes Care (1999) 1.39
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. J Med Genet (1999) 1.35
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation (2000) 1.32
Familial deletions of chromosome 22q11. Am J Med Genet (1997) 1.29
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod (2004) 1.29
Insulin management and metabolic control of type 1 diabetes mellitus in childhood and adolescence in 18 countries. Hvidøre Study Group on Childhood Diabetes. Diabet Med (1998) 1.29
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet (1999) 1.24
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet (2000) 1.24
The effect of subclinical hypothyroidism on metabolic control in children and adolescents with Type 1 diabetes mellitus. Diabet Med (2002) 1.23
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. J Med Genet (2003) 1.23
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet (2007) 1.22
The role of nitric oxide in the development of diabetic angiopathy. Horm Metab Res (2004) 1.20
Murine model of Clostridium difficile infection with aged gnotobiotic C57BL/6 mice and a BI/NAP1 strain. J Infect Dis (2010) 1.19
Prevalence and clinical picture of celiac disease in italian down syndrome patients: a multicenter study. J Pediatr Gastroenterol Nutr (2001) 1.19
Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet (2003) 1.18
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. Clin Genet (1998) 1.14
Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. Am J Med Genet (1995) 1.14
Effect of gluten-free diet on the metabolic control of type 1 diabetes in patients with diabetes and celiac disease. Diabetes Care (2000) 1.14
Vascular endothelial growth factor (VEGF) in children, adolescents and young adults with Type 1 diabetes mellitus: relation to glycaemic control and microvascular complications. Diabet Med (2000) 1.14
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet (1997) 1.13
WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. Hum Reprod (2006) 1.13
Type 2 diabetes mellitus in children and adolescents. J Endocrinol Invest (2005) 1.13
Weight gain following treatment with valproic acid: pathogenetic mechanisms and clinical implications. Obes Rev (2010) 1.12
Congenital heart defects in Kabuki syndrome. Am J Med Genet (2001) 1.09
Neonatal suppurative parotitis: a study of five cases. Eur J Pediatr (1999) 1.09
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Clin Genet (2014) 1.08
Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation (2001) 1.08
Proton magnetic resonance spectroscopy of human brain: applications to normal white matter, chronic infarction, and MRI white matter signal hyperintensities. Magn Reson Med (1992) 1.07
The distribution of genes on chromosomes: a cytological approach. J Mol Evol (1993) 1.07
Hyperhomocysteinemia in children treated with sodium valproate and carbamazepine. Epilepsy Res (2000) 1.06
Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. Am J Med Genet (1999) 1.06
Relationship between ascorbic acid and cell division. Exp Cell Res (1984) 1.06
Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). Br J Audiol (1999) 1.06
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet A (2005) 1.04
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. Am J Med Genet (1994) 1.04
Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet Cell Genet (1996) 1.03
Management of metabolic syndrome in children and adolescents. Nutr Metab Cardiovasc Dis (2011) 1.03
Endothelial perturbation in children and adolescents with type 1 diabetes: association with markers of the inflammatory reaction. Diabetes Care (2001) 1.02
Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med (2001) 1.02
Nonrandom association of atrioventricular canal and del (8p) syndrome. Am J Med Genet (1992) 1.02
cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene. Hum Mol Genet (1996) 1.02
Assignment of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21 and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human chromosome 1p32 by in situ hybridization. Cytogenet Cell Genet (2001) 1.02
Modification of glycosylated haemoglobin concentration during artificial endocrine pancreas treatment of diabetics. Evidence for a short-term effect on HbA 1 (a+b+c) levels. Diabetologia (1980) 1.01
Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. Muscle Nerve (2003) 1.00
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. J Med Genet (2002) 1.00
Final height in patients perinatally infected with the human immunodeficiency virus. Horm Res Paediatr (2010) 1.00
Puberty in perinatal HIV-1 infection: a multicentre longitudinal study of 212 children. AIDS (2001) 1.00
Atrioventricular canal defect without Down syndrome: a heterogeneous malformation. Am J Med Genet (1999) 1.00
Interleukin (IL)-6 and receptor activator of nuclear factor (NF)-kappaB ligand (RANKL) are increased in the serum of a patient with primary pachydermoperiostosis. Scand J Rheumatol (2008) 0.99
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. Hum Genet (1995) 0.99
Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature. Ann Genet (1989) 0.99
Long survival of a patient with Marshall-Smith syndrome without respiratory complications. J Med Genet (1993) 0.99
The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy. J Endocrinol Invest (2003) 0.99
Viral load and CD69 molecule expression on freshly isolated and cultured mitogen-stimulated lymphocytes of children with perinatal HIV-1 infection. Clin Exp Immunol (1999) 0.98
Increased bone turnover in epileptic patients treated with carbamazepine. Ann Neurol (2000) 0.98
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene. Eur J Hum Genet (1998) 0.98
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome. J Med Genet (2011) 0.98