Published in Eur J Pediatr on March 14, 2006
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Skeletal muscle weakness in osteogenesis imperfecta mice. Matrix Biol (2010) 0.82
Administration of soluble activin receptor 2B increases bone and muscle mass in a mouse model of osteogenesis imperfecta. Bone Res (2015) 0.78
'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia. Neuromuscul Disord (2013) 0.75
Osteogenesis imperfecta. Lancet (2004) 5.88
Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med (1998) 3.66
Reference data for bone density and body composition measured with dual energy x ray absorptiometry in white children and young adults. Arch Dis Child (2002) 1.70
Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. Arch Dis Child (2002) 1.65
A cross-sectional study on biochemical parameters of bone turnover and vitamin d metabolites in healthy dutch children and young adults. Horm Res (2002) 1.03
Collagen overglycosylation: a biochemical feature that may contribute to bone quality. Biochem Biophys Res Commun (2005) 0.90
Rapid increase in grip force after start of pamidronate therapy in children and adolescents with severe osteogenesis imperfecta. Pediatrics (2003) 0.86
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res (2002) 16.02
Biallelic inactivation of BRCA2 in Fanconi anemia. Science (2002) 9.31
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet (2006) 4.98
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet (2005) 4.92
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res (2003) 3.02
X-linked inheritance of Fanconi anemia complementation group B. Nat Genet (2004) 2.86
Identification of the Fanconi anemia complementation group I gene, FANCI. Cell Oncol (2007) 2.50
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet (2007) 2.40
PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet (2009) 2.16
Altered bone mineral density and body composition, and increased fracture risk in childhood acute lymphoblastic leukemia. J Pediatr (2002) 2.04
Maternal thyroid function during early pregnancy and cognitive functioning in early childhood: the generation R study. J Clin Endocrinol Metab (2010) 1.93
Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism. Arch Otolaryngol Head Neck Surg (2005) 1.91
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am J Hum Genet (2007) 1.67
PLS3 mutations in X-linked osteoporosis with fractures. N Engl J Med (2013) 1.66
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet (2012) 1.62
Maternal thyroid autoimmunity during pregnancy and the risk of attention deficit/hyperactivity problems in children: the Generation R Study. Thyroid (2011) 1.61
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. Am J Hum Genet (2012) 1.60
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet (2011) 1.50
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. Circulation (2004) 1.44
Anti-Mullerian hormone is a sensitive serum marker for gonadal function in women treated for Hodgkin's lymphoma during childhood. J Clin Endocrinol Metab (2007) 1.42
Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A (2005) 1.42
Soluble Flt1 and placental growth factor are novel determinants of newborn thyroid (dys)function: the generation R study. J Clin Endocrinol Metab (2014) 1.40
High-resolution mapping of molecular events associated with immortalization, transformation, and progression to breast cancer in the MCF10 model. Breast Cancer Res Treat (2006) 1.40
Childhood papillary thyroid carcinoma with miliary pulmonary metastases. J Clin Oncol (2006) 1.39
Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem (2005) 1.37
Genetic subtyping of Fanconi anemia by comprehensive mutation screening. Hum Mutat (2008) 1.34
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet (2012) 1.29
Maternal thyroid function during pregnancy and behavioral problems in the offspring: the generation R study. Pediatr Res (2011) 1.27
Fine-mapping loss of gene architecture at the CDKN2B (p15INK4b), CDKN2A (p14ARF, p16INK4a), and MTAP genes in head and neck squamous cell carcinoma. Arch Otolaryngol Head Neck Surg (2006) 1.17
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. Am J Hum Genet (2013) 1.17
Delineating genetic pathways of disease progression in head and neck squamous cell carcinoma. Arch Otolaryngol Head Neck Surg (2003) 1.14
Generation and molecular characterization of head and neck squamous cell lines of fanconi anemia patients. Cancer Res (2005) 1.12
Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg (2003) 1.12
Final height in girls with turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens. J Clin Endocrinol Metab (2003) 1.11
A high hypospadias rate in The Netherlands. Hum Reprod (2002) 1.10
The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas. Mol Hum Reprod (2004) 1.09
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. Eur J Hum Genet (2009) 1.07
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. Hum Mutat (2002) 1.04
A cross-sectional study on biochemical parameters of bone turnover and vitamin d metabolites in healthy dutch children and young adults. Horm Res (2002) 1.03
Influence of timing and dose of thyroid hormone replacement on mental, psychomotor, and behavioral development in children with congenital hypothyroidism. J Pediatr (2005) 1.03
Maternal thyroid hormone parameters during early pregnancy and birth weight: the Generation R Study. J Clin Endocrinol Metab (2012) 1.03
Diagnostic approach in children with short stature. Horm Res (2009) 1.02
The clinical spectrum of complete FBN1 allele deletions. Eur J Hum Genet (2010) 1.00
Longitudinal follow-up of bone density and body composition in children with precocious or early puberty before, during and after cessation of GnRH agonist therapy. J Clin Endocrinol Metab (2002) 0.97
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. J Med Genet (2013) 0.96
Inhibin B is superior to FSH as a serum marker for spermatogenesis in men treated for Hodgkin's lymphoma with chemotherapy during childhood. Hum Reprod (2007) 0.96
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. Eur J Hum Genet (2012) 0.95
Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services. Community Genet (2003) 0.95
Searching for preeclampsia genes: the current position. Eur J Obstet Gynecol Reprod Biol (2002) 0.94
Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia. Haematologica (2009) 0.94
No difference between prednisolone and dexamethasone treatment in bone mineral density and growth in long term survivors of childhood acute lymphoblastic leukemia. Pediatr Blood Cancer (2006) 0.93
Hypothyroxinemia and TPO-antibody positivity are risk factors for premature delivery: the generation R study. J Clin Endocrinol Metab (2013) 0.92
Final height outcome after three years of growth hormone and gonadotropin-releasing hormone agonist treatment in short adolescents with relatively early puberty. J Clin Endocrinol Metab (2007) 0.89
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome. Eur J Hum Genet (2007) 0.89
Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification. J Clin Endocrinol Metab (2008) 0.87
Inflammation aggravates disease severity in Marfan syndrome patients. PLoS One (2012) 0.87
Maternal early pregnancy and newborn thyroid hormone parameters: the Generation R study. J Clin Endocrinol Metab (2011) 0.86
Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome. J Clin Endocrinol Metab (2010) 0.86
Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings. Pediatr Dev Pathol (2010) 0.86
The relation between 25-hydroxyvitamin D with peak bone mineral density and body composition in healthy young adults. J Pediatr Endocrinol Metab (2011) 0.85
Ethnic differences in maternal thyroid parameters during pregnancy: the Generation R study. J Clin Endocrinol Metab (2013) 0.85
Bone mineral density, growth, and thyroid function in long-term survivors of pediatric Hodgkin's lymphoma treated with chemotherapy only. J Clin Endocrinol Metab (2009) 0.84
Quality of life after growth hormone therapy and induced puberty in women with Turner syndrome. J Pediatr (2006) 0.84
Complete COL1A1 allele deletions in osteogenesis imperfecta. Genet Med (2010) 0.84
The hypothalamus-pituitary-testis axis in boys during the first six months of life: a comparison of cryptorchidism and hypospadias cases with controls. Int J Androl (2008) 0.83
Bone mineral density and body composition in adolescents with childhood-onset growth hormone deficiency. Horm Res (2009) 0.82
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family. Hum Mutat (2010) 0.82
BRCA1 and BRCA2 germline mutation analysis in the Indonesian population. Breast Cancer Res Treat (2007) 0.81
The cryptorchidism prevalence among infants in the general population of Rotterdam, the Netherlands. Int J Androl (2005) 0.81
Cardiac status after childhood growth hormone treatment of Turner syndrome. J Clin Endocrinol Metab (2008) 0.81
Adult height in children with growth hormone deficiency: a randomized, controlled, growth hormone dose-response trial. Horm Res Paediatr (2010) 0.80
Long-term effects of growth hormone therapy on bone mineral density, body composition, and serum lipid levels in growth hormone deficient children: a 6-year follow-up study. Horm Res (2002) 0.80
Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome. Gene (2013) 0.80
Neonatal Marfan syndrome: clinical report and review of the literature. Clin Dysmorphol (2005) 0.80
Comparison of body surface area versus weight-based growth hormone dosing for girls with Turner syndrome. Horm Res Paediatr (2014) 0.79
The effect of oxandrolone on voice frequency in growth hormone-treated girls with Turner syndrome. J Voice (2010) 0.79
Growth monitoring to detect children with cystic fibrosis. Horm Res (2009) 0.79
Angiotensin II blockade in Marfan's syndrome. N Engl J Med (2008) 0.79
Cognitive development in congenital hypothyroidism: is overtreatment a greater threat than undertreatment? J Clin Endocrinol Metab (2013) 0.79
Free dissociable insulin-like growth factor I (IGF-I), total IGF-I and their binding proteins in girls with Turner syndrome during long-term growth hormone treatment. Clin Endocrinol (Oxf) (2006) 0.78
The effect of the weak androgen oxandrolone on psychological and behavioral characteristics in growth hormone-treated girls with Turner syndrome. Horm Behav (2010) 0.78
Women with high early pregnancy urinary iodine levels have an increased risk of hyperthyroid newborns: the population-based Generation R Study. Clin Endocrinol (Oxf) (2013) 0.78
Different surgical findings in congenital and acquired undescended testes. BJU Int (2012) 0.78
Intracranial hypertension in 2 children with marfan syndrome. J Child Neurol (2008) 0.77
Osteogenesis imperfecta, normal collagen folding, and lack of cyclophilin B. N Engl J Med (2010) 0.77
The effect of oxandrolone on body proportions and body composition in growth hormone-treated girls with Turner syndrome. Clin Endocrinol (Oxf) (2010) 0.77
[Osteogenesis imperfecta: clinical and genetic heterogeneity]. Ned Tijdschr Geneeskd (2012) 0.77
Psychosocial functioning after discontinuation of long-term growth hormone treatment in girls with Turner syndrome. Horm Res (2005) 0.77
Effect of oxandrolone on glucose metabolism in growth hormone-treated girls with Turner syndrome. Horm Res Paediatr (2010) 0.76
Maternal early-pregnancy thyroid function is associated with subsequent hypertensive disorders of pregnancy: the generation R study. J Clin Endocrinol Metab (2014) 0.76
Semen cryopreservation in pubertal boys before gonadotoxic treatment and the role of endocrinologic evaluation in predicting sperm yield. Fertil Steril (2007) 0.76
Long-term follow-up of GH-treated girls with Turner syndrome: BMI, blood pressure, body proportions. Horm Res (2009) 0.76
Bone mineral density in childhood acute lymphoblastic leukemia (ALL) during and after treatment. Pediatr Blood Cancer (2004) 0.76
Clinical utility gene card for: osteogenesis imperfecta. Eur J Hum Genet (2012) 0.75
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia. Hum Mutat (2006) 0.75
Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences. Horm Res (2009) 0.75
Experience in treating congenital hypothyroidism: implications regarding free thyroxine and thyrotropin steady-state concentrations during optimal levothyroxine treatment. Thyroid (2013) 0.75
Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome. Eur J Endocrinol (2012) 0.75