Current and emerging treatments for the management of osteogenesis imperfecta.

PubWeight™: 1.21‹?› | Rank: Top 10%

🔗 View Article (PMC 2940745)

Published in Ther Clin Risk Manag on September 07, 2010

Authors

Elena Monti1, Monica Mottes, Paolo Fraschini, Piercarlo Brunelli, Antonella Forlino, Giacomo Venturi, Francesco Doro, Silvia Perlini, Paolo Cavarzere, Franco Antoniazzi

Author Affiliations

1: Department of Life Sciences and Reproduction, Pediatric Clinic University of Verona, Verona, Italy;

Articles citing this

Osteogenesis Imperfecta: A Review with Clinical Examples. Mol Syndromol (2011) 1.38

Children and adolescents treated with neridronate for osteogenesis imperfecta show no evidence of any osteonecrosis of the jaw. J Bone Miner Metab (2011) 0.83

Recent developments in osteogenesis imperfecta. F1000Res (2015) 0.80

Are Changes in Composition in Response to Treatment of a Mouse Model of Osteogenesis Imperfecta Sex-dependent? Clin Orthop Relat Res (2015) 0.77

Interdisciplinary Care Improves Functional Mobility in an Individual with Type IX Osteogenesis Imperfecta. HSS J (2015) 0.75

Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta. Endocrinol Diabetes Metab Case Rep (2013) 0.75

Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta. Eur J Hum Genet (2013) 0.75

Beneficial effects of growth hormone therapy for ossification defects after bone distraction in X linked hypophosphataemic rickets. BMJ Case Rep (2014) 0.75

Clinical utility gene card for: osteogenesis imperfecta. Eur J Hum Genet (2012) 0.75

Conservative versus surgical treatment of osteogenesis imperfecta: a retrospective analysis of 29 patients. Clin Cases Miner Bone Metab (2012) 0.75

Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. J Multidiscip Healthc (2017) 0.75

Fluoroscopy-guided Sacroiliac Joint Steroid Injection for Low Back Pain in a Patient with Osteogenesis Imperfecta. West Indian Med J (2015) 0.75

Osteogenesis imperfecta type I: A case report. Exp Ther Med (2014) 0.75

Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta. Medicine (Baltimore) (2017) 0.75

Custom hemiarthroplasties for retention of existing hardware associated with osteogenesis imperfecta. Arthroplast Today (2017) 0.75

Articles cited by this

(truncated to the top 100)

Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis. N Engl J Med (2001) 16.81

Genetic heterogeneity in osteogenesis imperfecta. J Med Genet (1979) 12.51

Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med (1999) 9.73

Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: Implications for cell therapy of bone. Proc Natl Acad Sci U S A (2002) 6.05

Osteogenesis imperfecta. Lancet (2004) 5.88

Collagens: molecular biology, diseases, and potentials for therapy. Annu Rev Biochem (1995) 5.52

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell (2006) 4.10

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93

Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med (1998) 3.66

Marrow stromal cells as a source of progenitor cells for nonhematopoietic tissues in transgenic mice with a phenotype of osteogenesis imperfecta. Proc Natl Acad Sci U S A (1998) 3.17

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med (2006) 2.97

Bisphosphonates: mechanisms of action. Endocr Rev (1998) 2.93

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat (2008) 2.66

Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood (2001) 2.65

Skeletal changes in rats given daily subcutaneous injections of recombinant human parathyroid hormone (1-34) for 2 years and relevance to human safety. Toxicol Pathol (2002) 2.55

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med (2010) 2.44

Bone mineralization density distribution in health and disease. Bone (2007) 2.35

Growth hormone and bone. Endocr Rev (1998) 2.28

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.27

Bisphosphonates: mode of action and pharmacology. Pediatrics (2007) 2.25

PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet (2009) 2.16

Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study. Lancet (2004) 1.95

Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta. Transplantation (2005) 1.85

Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. Arch Dis Child (2002) 1.65

Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab (2000) 1.65

Temporary brittle bone disease: association with decreased fetal movement and osteopenia. Calcif Tissue Int (1999) 1.64

Classification of Osteogenesis Imperfecta revisited. Eur J Med Genet (2009) 1.64

Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis. J Pediatr (1996) 1.56

Insulin-like growth factor I has independent effects on bone matrix formation and cell replication. Endocrinology (1988) 1.56

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissue Res (2009) 1.56

Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Disord (2008) 1.52

Complications in the use of the Bailey-Dubow extensible nail. Clin Orthop Relat Res (1998) 1.49

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet (2008) 1.45

Osteogenesis imperfecta: a clinical study of the first ten years of life. Calcif Tissue Int (1992) 1.43

Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study. J Bone Miner Res (2004) 1.32

Experience with bisphosphonates in osteogenesis imperfecta. Pediatrics (2007) 1.32

Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta. Mol Ther (2007) 1.31

Biphosphonates. Arch Dis Child (1997) 1.31

How do mesenchymal stromal cells exert their therapeutic benefit? Cytotherapy (2008) 1.30

Osteogenesis imperfecta, non-accidental injury, and temporary brittle bone disease. Arch Dis Child (1995) 1.29

Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. J Pediatr (1996) 1.29

Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev (2008) 1.29

Increased activity of insulin-like growth factor (IGF) in osteoblastic cells in the presence of growth hormone (GH): positive correlation with the presence of the GH-induced IGF-binding protein BP-3. Endocrinology (1990) 1.21

Long-term effects of bisphosphonates on the growing skeleton. Studies of young patients with severe osteoporosis. Medicine (Baltimore) (1997) 1.17

Intravenous pamidronate treatment in osteogenesis imperfecta. J Pediatr (1997) 1.17

WeeFIM. Normative sample of an instrument for tracking functional independence in children. Clin Pediatr (Phila) (1994) 1.17

Hypercalcaemia in osteogenesis imperfecta treated with pamidronate. Arch Dis Child (1997) 1.14

Surgical treatment of osteogenesis imperfecta: current concepts. Curr Opin Pediatr (2008) 1.14

Adverse effects of bisphosphonates. A comparative review. Drug Saf (1996) 1.12

Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome. J Bone Miner Res (2005) 1.12

Regulatory effects of insulin-like growth factors I and II on bone collagen synthesis in rat calvarial cultures. Endocrinology (1989) 1.12

Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta. Bone (2007) 1.11

In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta. Blood (2009) 1.08

Is APD a promising drug in the treatment of severe osteogenesis imperfecta? J Pediatr Orthop (1988) 1.07

Bone mineral content and density in healthy subjects and in osteogenesis imperfecta. Arch Dis Child (1994) 1.06

Bisphosphonates in osteoporosis. Eur Spine J (2003) 1.05

Genetic evaluation of suspected osteogenesis imperfecta (OI). Genet Med (2006) 1.04

Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res (2010) 1.04

Dental aberrations in children and adolescents with osteogenesis imperfecta. Acta Odontol Scand (2002) 1.02

Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen. J Bone Miner Res (2003) 1.02

Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options. Anesth Analg (2009) 1.02

Bisphosphonate therapy for children and adolescents with secondary osteoporosis. Cochrane Database Syst Rev (2007) 1.01

Osteogenesis imperfecta, current and future medical treatment. Am J Med Genet C Semin Med Genet (2005) 1.01

Osteogenesis imperfecta. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2007) 1.00

Osteogenesis imperfecta: clinical, biochemical and molecular findings. Clin Genet (2006) 0.99

Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. J Neurosurg (1997) 0.98

Operative treatment of severe scoliosis in osteogenesis imperfecta: results of 20 patients after halo traction and posterior spondylodesis with instrumentation. Eur Spine J (2000) 0.98

High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. Am J Hum Genet (2004) 0.98

Pamidronate in children with osteogenesis imperfecta: histomorphometric effects of long-term therapy. J Clin Endocrinol Metab (2005) 0.97

Nonoperative treatment of osteogenesis imperfecta: orthotic and mobility management. Clin Orthop Relat Res (1981) 0.96

RNAi of COL1A1 in mesenchymal progenitor cells. Eur J Hum Genet (2004) 0.96

Osteogenesis imperfecta. J Am Acad Orthop Surg (1998) 0.96

Osteogenesis imperfecta. Rehabilitation and prospects for gene therapy. JAMA (1997) 0.94

Vertebral morphometry in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate treatment. Bone (2006) 0.94

Osteogenesis imperfecta: practical treatment guidelines. Paediatr Drugs (2000) 0.93

Antisense oligodeoxynucleotides selectively suppress expression of the mutant alpha 2(I) collagen allele in type IV osteogenesis imperfecta fibroblasts. A molecular approach to therapeutics of dominant negative disorders. J Clin Invest (1996) 0.92

Radiological manifestations of bisphosphonate treatment with APD in a child suffering from osteogenesis imperfecta. Skeletal Radiol (1987) 0.92

Osteogenesis imperfecta: questions and answers. Curr Opin Pediatr (2009) 0.92

Cleavage of collagen RNA transcripts by hammerhead ribozymes in vitro is mutation-specific and shows competitive binding effects. Nucleic Acids Res (1997) 0.91

Skeletal growth factor and other growth factors known to be present in bone matrix stimulate proliferation and protein synthesis in human bone cells. J Bone Miner Res (1990) 0.91

Osteoporosis during pregnancy and its management. Scand J Rheumatol Suppl (1998) 0.90

Collagen-derived markers of bone metabolism in osteogenesis imperfecta. Acta Paediatr (1998) 0.89

Physical training in children with osteogenesis imperfecta. J Pediatr (2007) 0.89

Treatment of children with Osteogenesis imperfecta in Estonia. Acta Paediatr (2003) 0.89

Growth hormone injections improve bone quality in a mouse model of osteogenesis imperfecta. J Bone Miner Res (2005) 0.89

Early bisphosphonate treatment in infants with severe osteogenesis imperfecta. J Pediatr (2006) 0.88

Humeral rodding in osteogenesis imperfecta. J Pediatr Orthop (1997) 0.87

Treatment of osteogenesis imperfecta: who, why, what? Horm Res (2007) 0.87

Osteogenesis imperfecta in childhood: treatment strategies. Arch Phys Med Rehabil (1998) 0.87

Emerging therapeutic approaches for osteogenesis imperfecta. Trends Mol Med (2005) 0.87

Osteogenesis imperfecta calls for caution. Nat Med (1999) 0.86

Management of lower-extremity deformities in osteogenesis imperfecta with extensible intramedullary rod technique: a 20-year experience. J Pediatr Orthop (1998) 0.86

Anthropometry of patients with osteogenesis imperfecta. Arch Dis Child (1999) 0.86

Audiological findings in osteogenesis imperfecta. J Am Acad Audiol (2008) 0.85

Osteogenesis imperfecta calls for caution. Nat Med (1999) 0.83

Bone development during GH and GnRH analog treatment. Eur J Endocrinol (2004) 0.83

Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate (dimethylaminohydroxypropylidene bisphosphonate). Eur J Pediatr (1997) 0.83

Oral findings in adults with osteogenesis imperfecta. Spec Care Dentist (2009) 0.83

Telescoping versus non-telescoping rods in the treatment of osteogenesis imperfecta. Acta Orthop Belg (2009) 0.82

Intravenous pamidronate treatment in osteogenesis imperfecta. Eur J Pediatr (1998) 0.82

Articles by these authors

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93

Characterization and identification of vaccine candidate proteins through analysis of the group A Streptococcus surface proteome. Nat Biotechnol (2006) 3.03

Consensus statement on the use of gonadotropin-releasing hormone analogs in children. Pediatrics (2009) 2.67

Rational design of a meningococcal antigen inducing broad protective immunity. Sci Transl Med (2011) 2.59

Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates. J Biol Chem (2008) 1.92

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N Engl J Med (2014) 1.89

Reduction of baseline body mass index under gonadotropin-suppressive therapy in girls with idiopathic precocious puberty. Eur J Endocrinol (2004) 1.79

XX males SRY negative: a confirmed cause of infertility. J Med Genet (2011) 1.75

GH in combination with bisphosphonate treatment in osteogenesis imperfecta. Eur J Endocrinol (2010) 1.61

Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength. J Bone Miner Res (2004) 1.47

Outer membrane vesicles from group B Neisseria meningitidis delta gna33 mutant: proteomic and immunological comparison with detergent-derived outer membrane vesicles. Proteomics (2006) 1.39

Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study. J Bone Miner Res (2004) 1.32

Proteomics characterization of outer membrane vesicles from the extraintestinal pathogenic Escherichia coli DeltatolR IHE3034 mutant. Mol Cell Proteomics (2007) 1.30

Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors. J Bone Miner Res (2008) 1.12

In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta. Blood (2009) 1.08

Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen. J Bone Miner Res (2012) 1.04

Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy. Stem Cells (2012) 1.00

A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect. Bone (2011) 0.99

Glycosaminoglycans show a specific periodic interaction with type I collagen fibrils. J Struct Biol (2008) 0.98

Prevalence of overweight and obesity in 2- to 6-year-old Italian children. Obesity (Silver Spring) (2006) 0.96

RrgB321, a fusion protein of the three variants of the pneumococcal pilus backbone RrgB, is protective in vivo and elicits opsonic antibodies. Infect Immun (2011) 0.96

HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency. Hum Mol Genet (2007) 0.95

Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. Clin Endocrinol (Oxf) (2009) 0.92

Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling. Matrix Biol (2010) 0.92

The volumetric bone density and cortical thickness in adult patients affected by osteogenesis imperfecta. J Clin Densitom (2003) 0.90

Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model. Matrix Biol (2004) 0.89

Immunization with the RrgB321 fusion protein protects mice against both high and low pilus-expressing Streptococcus pneumoniae populations. Vaccine (2011) 0.89

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum Mutat (2012) 0.89

Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. J Hum Genet (2004) 0.88

Osteogenesis imperfecta. Pediatr Endocrinol Rev (2013) 0.86

Identifying the structure of the active sites of human recombinant prolidase. Eur Biophys J (2009) 0.86

N-benzyloxycarbonyl-L-proline: an in vitro and in vivo inhibitor of prolidase. Biochim Biophys Acta (2005) 0.85

Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology. J Biol Chem (2001) 0.85

A quantitative and qualitative method for direct 2-DE analysis of murine cartilage. Proteomics (2007) 0.84

Characterization of stress response in human retinal epithelial cells. J Cell Mol Med (2012) 0.84

Children and adolescents treated with neridronate for osteogenesis imperfecta show no evidence of any osteonecrosis of the jaw. J Bone Miner Metab (2011) 0.83

Alteration of proteoglycan sulfation affects bone growth and remodeling. Bone (2013) 0.83

Menstrual cycle pattern during the first gynaecological years in girls with precocious puberty following gonadotropin-releasing hormone analogue treatment. Eur J Pediatr (2006) 0.83

Infantile cortical hyperostosis and COL1A1 mutation in four generations. Eur J Pediatr (2011) 0.83

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. J Clin Endocrinol Metab (2013) 0.83

Matrix disruptions, growth, and degradation of cartilage with impaired sulfation. J Biol Chem (2012) 0.82

3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. JIMD Rep (2011) 0.82

Human recombinant prolidase from eukaryotic and prokaryotic sources. Expression, purification, characterization and long-term stability studies. FEBS J (2006) 0.82

Characterization and functional analysis of cis-acting elements of the human farnesyl diphosphate synthetase (FDPS) gene 5' flanking region. Genomics (2008) 0.82

Prevalence of polycystic ovary syndrome in young women who had idiopathic central precocious puberty. Fertil Steril (2009) 0.82

Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: a proteomic approach. J Proteomics (2012) 0.81

Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1. J Invest Dermatol (2008) 0.81

Sleep-disordered breathing is associated with blood pressure and carotid arterial stiffness in obese children. J Hypertens (2017) 0.80

Replenishing cartilage from endogenous stem cells. N Engl J Med (2012) 0.80

Decorin transfection induces proteomic and phenotypic modulation in breast cancer cells 8701-BC. Connect Tissue Res (2008) 0.80

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. Neurol Sci (2014) 0.80

Molecular stability of chemically modified collagen triple helices. FEBS Lett (2003) 0.79

Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations. JIMD Rep (2011) 0.79

A Mn(II)-Mn(II) center in human prolidase. Biochim Biophys Acta (2012) 0.79

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. Hum Mutat (2015) 0.78

In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation. Biochem J (2006) 0.77

The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011). Pediatr Endocrinol Rev (2012) 0.77

Improved prolidase activity assay allowed enzyme kinetic characterization and faster prolidase deficiency diagnosis. Clin Chim Acta (2011) 0.77

Multiple effects of the Na(+)/H (+) antiporter inhibitor HMA on cancer cells. Apoptosis (2013) 0.77

Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center. Genet Test (2007) 0.77

Clinical and radiographic delineation of odontochondrodysplasia. Am J Med Genet A (2008) 0.77

The genetic background of osteoporosis in cystic fibrosis: association analysis with polymorphic markers in four candidate genes. J Cyst Fibros (2006) 0.77

Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes. Calcif Tissue Int (2015) 0.77

Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue. PLoS One (2013) 0.76

Relationship between immigration fluxes and patterns of small for gestational age in Italy. Acta Paediatr (2005) 0.76

Prolidase deficiency: case reports of two Argentinian brothers. Int J Dermatol (2004) 0.76

Altered signaling in the G1 phase deregulates chondrocyte growth in a mouse model with proteoglycan undersulfation. J Cell Biochem (2014) 0.76

Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism. BMC Endocr Disord (2014) 0.75

Prepubertal serum inhibin B in cryptorchid infants and in monorchid boys with compensatory testicular hypertrophy. Fertil Steril (2008) 0.75

Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen. ScientificWorldJournal (2008) 0.75

A 5-Month-Old Infant with Diffuse Cyanosis and No Other Symptoms. Pediatr Ann (2016) 0.75

Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. JIMD Rep (2015) 0.75

Lung Function in Women with Idiopathic Central Precocious Puberty: A Pilot Study
. Horm Res Paediatr (2017) 0.75

Osteogenesis imperfecta and its molecular diagnosis by determination of mutations of type I collagen genes. Pediatr Endocrinol Rev (2006) 0.75

Diagnostic pitfalls in the assessment of congenital hypopituitarism. J Endocrinol Invest (2014) 0.75

Analysis of the d3-growth hormone receptor polymorphism in large cohorts of small, appropriate and large for gestational age newborns. Minerva Pediatr (2014) 0.75

Possible andrologic markers in elevated neonatal 17-hydroxyprogesterone. Fertil Steril (2010) 0.75

Optimization of a capillary electrophoretic method to detect and quantify the Gly-Pro dipeptide in complex matrices from long term cultured prolidase deficiency fibroblasts. J Chromatogr B Analyt Technol Biomed Life Sci (2003) 0.75

Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8. Hum Genet (2011) 0.75