Published in Am J Case Rep on June 13, 2012
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell (1994) 5.96
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet (1995) 2.93
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet (1995) 2.30
[Thanatophoric dwarfism]. Presse Med (1967) 2.25
22q13 deletion syndrome. Am J Med Genet (2001) 1.94
International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone. Am J Med Genet (1998) 1.81
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet (1998) 1.72
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat Genet (1995) 1.27
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. Am J Med Genet (1998) 1.21
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation. Eur J Hum Genet (2006) 1.10
Further delineation of the 22q13 deletion syndrome. Clin Dysmorphol (2005) 1.08
A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings. Am J Med Genet A (2004) 1.00
Heterotaxy with left atrial isomerism in a patient with deletion 18p. Am J Med Genet (2000) 0.91
Mosaic trisomy 21/monosomy 21 in a living female infant. Cytogenet Genome Res (2009) 0.88
FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation. South Med J (2000) 0.85
Down syndrome, achondroplasia and tetralogy of Fallot. Neonatology (2008) 0.85
Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening. Obstet Gynecol (2006) 0.84
Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report. Prenat Diagn (2009) 0.82
The human chromosome 22-located genes and malignancies of the central nervous system. Neuropathol Appl Neurobiol (1996) 0.81
First postnatal case of mosaic del(22)/r(22). Prenat Diagn (2003) 0.81
Thanatophoric dysplasia: an autosomal dominant condition? Am J Med Genet (1988) 0.78
Inactivating KISS1 mutation and hypogonadotropic hypogonadism. N Engl J Med (2012) 1.68
Vascular complications in living-related and deceased donation pediatric liver transplantation: single center's experience from Turkey. Pediatr Transplant (2007) 1.51
Impact of liver transplantation on rate-corrected QT interval and myocardial function in children with chronic liver disease*. Pediatr Transplant (2008) 1.48
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. Eur J Hum Genet (2008) 1.46
Positive association of macrophage migration inhibitory factor gene-173G/C polymorphism with biliary atresia. J Pediatr Gastroenterol Nutr (2006) 1.13
Clinical and epidemiological features of Turkish children with 2009 pandemic influenza A (H1N1) infection: experience from multiple tertiary paediatric centres in Turkey. Scand J Infect Dis (2011) 0.94
Clinical findings and phenotype in a toddler with 48,XXYY syndrome. Am J Med Genet A (2003) 0.93
Helicobacter pylori infection in children with celiac disease. Scand J Gastroenterol (2008) 0.92
Polymorphisms of the ICAM-1 gene are associated with biliary atresia. Dig Dis Sci (2008) 0.92
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. J Clin Res Pediatr Endocrinol (2012) 0.87
MTHFR gene polymorphisms in bladder cancer in the Turkish population. Asian Pac J Cancer Prev (2011) 0.85
Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. Pediatr Nephrol (2006) 0.84
There is no significant association between death receptor 4 (DR4) gene polymorphisms and lung cancer in Turkish population. Pathol Oncol Res (2013) 0.83
International study on Sagliker syndrome and uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic kidney disease patients. J Ren Nutr (2008) 0.82
Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR. Genet Test Mol Biomarkers (2009) 0.82
Liver transplantation for acute liver failure due to toxic agent ingestion in children. Pediatr Transplant (2009) 0.82
Nutritional status of infants with neonatal cholestasis. Dig Dis Sci (2007) 0.81
Liver transplantation for progressive familial intrahepatic cholestasis: clinical and histopathological findings, outcome and impact on growth. Pediatr Transplant (2007) 0.79
Chromosomal fragile site expression in Turkish psychiatric patients. Psychiatry Res (2006) 0.78
Microchimeric Cells, Sex Chromosome Aneuploidies and Cancer. Pathol Oncol Res (2015) 0.78
Polymorphisms in NRAMP1 and MBL2 genes and their relations with tuberculosis in Turkish children. Tuberk Toraks (2011) 0.78
Pregnancy in patients with chronic myeloid leukemia treated with imatinib. Leuk Lymphoma (2007) 0.77
Late-onset graft-versus-host disease after pediatric living-related liver transplantation for Langerhans cell histiocytosis. Pediatr Transplant (2009) 0.77
Efficacy of daily and weekly iron supplementation on iron status in exclusively breast-fed infants. J Pediatr Hematol Oncol (2004) 0.77
Novel growth hormone receptor gene mutation in a patient with Laron syndrome. J Pediatr Endocrinol Metab (2010) 0.76
Relationship between metabolic control and neurocognitive functions in children diagnosed with type I diabetes mellitus before and after 5 years of age. Turk J Pediatr (2013) 0.76
Chromosome imbalances and alterations of AURKA and MYCN genes in children with neuroblastoma. Asian Pac J Cancer Prev (2012) 0.76
Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous. Am J Case Rep (2012) 0.75
Larengopharengeal reflux in patients with severe adeno-tonsil hyperplasia. Int J Pediatr Otorhinolaryngol (2006) 0.75
Chromium levels in healthy and newly diagnosed type 1 diabetic children. Pediatr Int (2012) 0.75
Immune haemolytic anaemia induced by allopurinol after liver transplantation. Acta Paediatr (2006) 0.75
Chromosome imbalances and alterations in the p53 gene in uterine myomas from the same family members: familial leiomyomatosis in Turkey. Asian Pac J Cancer Prev (2013) 0.75
Evaluation of growth after liver transplantation in Turkish children. Dig Dis Sci (2011) 0.75
Idiopathic central diabetes insipidus presenting in a very low birth weight infant successfully managed with lyophilized sublingual desmopressin. Turk J Pediatr (2015) 0.75
Long-term effect of gluten-free diet on growth velocity in Turkish children with celiac disease. Dig Dis Sci (2008) 0.75
Etiological evaluation of patients presenting with isolated micropenis to an academic health care center. Indian J Pediatr (2013) 0.75
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. Clin Endocrinol (Oxf) (2014) 0.75