Published in Orphanet J Rare Dis on April 26, 2014
Current research on pycnodysostosis. Intractable Rare Dis Res (2014) 1.16
From disease to treatment: from rare skeletal disorders to treatments for osteoporosis. Endocrine (2016) 0.76
A challenging paediatric pathological femur fracture in pyknodysostosis (osteopetrosis acro-osteolytica): lessons learnt. BMJ Case Rep (2014) 0.75
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region. Eur J Med Res (2016) 0.75
Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned. Endocr Rev (2017) 0.75
A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res (1988) 77.80
An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest (1990) 10.35
Mobile elements create structural variation: analysis of a complete human genome. Genome Res (2009) 7.06
Alu repeats and human disease. Mol Genet Metab (1999) 6.64
Alu-containing exons are alternatively spliced. Genome Res (2002) 5.45
Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons. Proc Natl Acad Sci U S A (1997) 4.80
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science (1996) 4.22
Mobile elements and mammalian genome evolution. Curr Opin Genet Dev (2003) 3.68
Association between a deletion polymorphism of the angiotensin-converting-enzyme gene and left ventricular hypertrophy. N Engl J Med (1994) 3.11
Mammalian non-LTR retrotransposons: for better or worse, in sickness and in health. Genome Res (2008) 2.83
[Pyknodysostosis]. Presse Med (1962) 2.26
Proteolytic activity of human osteoclast cathepsin K. Expression, purification, activation, and substrate identification. J Biol Chem (1996) 2.06
Human cathepsin K cleaves native type I and II collagens at the N-terminal end of the triple helix. Biochem J (1998) 1.85
Alu elements: know the SINEs. Genome Biol (2011) 1.81
[2 cases of a condensing osseous disease: pynodysostosis]. Arch Fr Pediatr (1962) 1.73
Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization. J Clin Endocrinol Metab (2000) 1.50
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. Hum Mutat (2007) 1.47
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. Orphanet J Rare Dis (2011) 1.40
Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy. Metabolism (2001) 1.39
Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nat Genet (1995) 1.30
Role of poly(A) tail length in Alu retrotransposition. Genomics (2005) 1.27
High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K. Osteoporos Int (2007) 1.22
Autocatalytic activation of human cathepsin K. J Biol Chem (1997) 1.20
Craniosynostosis: A rare complication of pycnodysostosis. Eur J Med Genet (2010) 1.10
Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. Am J Med Genet A (2010) 1.08
Structure and chromosomal assignment of the human cathepsin K gene. Genomics (1997) 1.02
The crystal structure of human procathepsin K. Biochemistry (1999) 0.94
The gene for pycnodysostosis maps to human chromosome 1cen-q21. Nat Genet (1995) 0.89
Insertion/deletion polymorphism of the ACE gene is associated with type 2 diabetes. Diabetes (2002) 0.88
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. Bone (2013) 0.88
Does angiotensin-converting enzyme gene polymorphism affect blood pressure? Findings after 6 years of follow-up in healthy subjects. Eur J Heart Fail (2004) 0.87
Pycnodysostosis with craniosynostosis: case report of the craniofacial and oral features. Clin Dysmorphol (2012) 0.85
A novel mutation in two families with pycnodysostosis. Clin Dysmorphol (2013) 0.83
A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis. BMJ Case Rep (2012) 0.79
Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med (2011) 3.84
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med (2016) 2.15
Reference values for serum dehydroepiandrosterone-sulphate in healthy children and adolescents with emphasis on the age of adrenarche and pubarche. Clin Endocrinol (Oxf) (2014) 2.07
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A (2008) 1.91
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet (2008) 1.68
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A (2004) 1.66
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis. J Clin Endocrinol Metab (2013) 1.61
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet (2010) 1.49
Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women. Am J Med Genet A (2004) 1.48
Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. Pediatr Blood Cancer (2009) 1.46
Interleukin 1 activates STAT3/nuclear factor-kappaB cross-talk via a unique TRAF6- and p65-dependent mechanism. J Biol Chem (2003) 1.45
A mutation screen in patients with Kabuki syndrome. Hum Genet (2011) 1.36
The evolution of sagittal segmental alignment of the spine during childhood. Spine (Phila Pa 1976) (2005) 1.35
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet (2006) 1.34
Vitamin D deficiency in early infancy. J Nutr (2005) 1.33
Vitamin D deficiency and prevention: Turkish experience. Acta Paediatr (2011) 1.23
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23
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
Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of rickets. J Clin Res Pediatr Endocrinol (2011) 1.19
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet (2010) 1.18
Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis (2006) 1.17
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet (2012) 1.15
Vitamin D intoxication. Turk J Pediatr (2012) 1.15
ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet (2009) 1.12
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Am J Hum Genet (2011) 1.12
Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet (2009) 1.12
Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings. Clin Dysmorphol (2002) 1.10
Rickets in the Middle East: role of environment and genetic predisposition. J Clin Endocrinol Metab (2008) 1.09
A case of dilated cardiomyopathy due to nutritional vitamin D deficiency rickets. Turk J Pediatr (2003) 1.07
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. Hum Mutat (2010) 1.06
PORCN mutations in focal dermal hypoplasia: coping with lethality. Hum Mutat (2009) 1.02
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. Am J Med Genet A (2006) 1.02
Consensus development for the supplementation of vitamin D in childhood and adolescence. Horm Res (2002) 1.02
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet (2011) 1.02
The skeletal dysplasias: clinical-molecular correlations. Ann N Y Acad Sci (2007) 1.02
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Am J Med Genet A (2010) 1.01
Addition of orlistat to conventional treatment in adolescents with severe obesity. Eur J Pediatr (2004) 0.99
Puberty and influencing factors in schoolgirls living in Istanbul: end of the secular trend? Pediatrics (2011) 0.99
Current status of childhood obesity and its associated morbidities in Turkey. J Clin Res Pediatr Endocrinol (2012) 0.98
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. Bone (2009) 0.95
Free vitamin D supplementation for every infant in Turkey. Arch Dis Child (2007) 0.95
Prevalence of type 1 diabetes mellitus in 6-18-yr-old school children living in Istanbul, Turkey. Pediatr Diabetes (2011) 0.94
Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy. Eur J Endocrinol (2011) 0.94
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet (2015) 0.94
Comparison of oral alendronate versus prednisolone in treatment of infants with vitamin D intoxication. Acta Paediatr (2011) 0.92
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. Turk J Pediatr (2012) 0.92
Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment. Pediatr Int (2008) 0.91
Significance of acanthosis nigricans in childhood obesity. J Paediatr Child Health (2008) 0.91
Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth. J Pediatr Surg (2010) 0.90
Premature pubarche, hyperinsulinemia and hypothyroxinemia: novel manifestations of congenital portosystemic shunts (Abernethy malformation) in children. Horm Res Paediatr (2015) 0.90
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nat Genet (2012) 0.89
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum Mutat (2012) 0.89
Cushing's syndrome secondary to topical corticosteroids abuse. Clin Endocrinol (Oxf) (2003) 0.88
Management of central diabetes insipidus with oral desmopressin lyophilisate in infants. J Pediatr Endocrinol Metab (2014) 0.87
Idiopathic pulmonary hemosiderosis in children with celiac disease. Respir Med (2005) 0.87
Interleukin-1 receptor antagonist gene VNTR polymorphism is associated with coronary artery disease. Arq Bras Cardiol (2008) 0.87
Cavernous malformation with Poland-Möbius syndrome. Case illustration. J Neurosurg (2007) 0.87
Report of a patient with Temple-Baraitser syndrome. Am J Med Genet A (2013) 0.86
Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes. Nephrol Dial Transplant (2011) 0.86
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. Am J Med Genet C Semin Med Genet (2012) 0.86
IMPAD1 mutations in two Catel-Manzke like patients. Am J Med Genet A (2012) 0.86
A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. J Child Neurol (2013) 0.86
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. Eur J Endocrinol (2013) 0.86
Circulating insulin-like growth factor binding protein-4 (IGFBP-4) is not regulated by parathyroid hormone and vitamin D in vivo: evidence from children with rickets. J Clin Res Pediatr Endocrinol (2010) 0.85
Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes. Turk J Pediatr (2009) 0.85
Effect of zinc supplementation on growth hormone secretion, IGF-I, IGFBP-3, somatomedin generation, alkaline phosphatase, osteocalcin and growth in prepubertal children with idiopathic short stature. J Pediatr Endocrinol Metab (2005) 0.85
Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance. Am J Med Genet A (2011) 0.85
Membranous nephropathy in Schimke immuno-osseous dysplasia. Pediatr Nephrol (2006) 0.84
Neonatal seizure as a manifestation of unrecognized maternal hyperparathyroidism. J Clin Res Pediatr Endocrinol (2013) 0.84
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. Hum Mutat (2013) 0.84
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. J Neurosurg (2007) 0.84
Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report. J Clin Res Pediatr Endocrinol (2012) 0.83
Serum vitamin D levels in children with recurrent otitis media. Eur Arch Otorhinolaryngol (2013) 0.83
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. Am J Med Genet A (2015) 0.83
Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome. Clin Dysmorphol (2008) 0.82
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. Am J Hum Genet (2009) 0.82