A severe alpha thalassemia case compound heterozygous for Hb Adana in alpha1 gene and 20.5 kb double gene deletion.

PubWeight™: 2.21‹?› | Rank: Top 2%

🔗 View Article (PMID 19636270)

Published in J Pediatr Hematol Oncol on August 01, 2009

Authors

Asude Alpman Durmaz1, Haluk Akin, Aslihan Yilmaz Ekmekci, Huseyin Onay, Burak Durmaz, Ozgur Cogulu, Yesim Aydinok, Ferda Ozkinay

Author Affiliations

1: Department of Medical Genetics, Subdivision of Genetics and Teratology, Ege University Medical Faculty, Izmir, Turkey. asudealpman@gmail.com

Articles by these authors

A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood (2005) 6.07

Efficacy of deferasirox in reducing and preventing cardiac iron overload in beta-thalassemia. Blood (2009) 2.20

Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency. J Pediatr (2003) 1.84

Association between Ala-9Val polymorphism of Mn-SOD gene and schizophrenia. Prog Neuropsychopharmacol Biol Psychiatry (2005) 1.71

A 1-year randomized controlled trial of deferasirox vs deferoxamine for myocardial iron removal in β-thalassemia major (CORDELIA). Blood (2014) 1.54

A phase 2 study of the safety, tolerability, and pharmacodynamics of FBS0701, a novel oral iron chelator, in transfusional iron overload. Blood (2012) 1.49

Ring chromosome 20 syndrome with intractable epilepsy. Dev Med Child Neurol (2005) 1.40

Iron chelation with deferasirox in adult and pediatric patients with thalassemia major: efficacy and safety during 5 years' follow-up. Blood (2011) 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

Rotavirus gastroenteritis among children under five years of age in Izmir, Turkey. Turk J Pediatr (2004) 1.21

Deferasirox for up to 3 years leads to continued improvement of myocardial T2* in patients with β-thalassemia major. Haematologica (2012) 1.07

Continued improvement in myocardial T2* over two years of deferasirox therapy in β-thalassemia major patients with cardiac iron overload. Haematologica (2010) 1.04

Congenital supratentorial cystic hemangioblastoma. Case report and review of the literature. J Neurosurg (2007) 1.02

Multi-center transferability of a breath-hold T2 technique for myocardial iron assessment. J Cardiovasc Magn Reson (2008) 1.02

Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals. Fetal Diagn Ther (2008) 1.02

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. Hum Genet (2013) 1.01

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet (2011) 1.01

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. J Clin Endocrinol Metab (2005) 0.98

SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet (2010) 0.97

Can mycoplasma-mediated oncogenesis be responsible for formation of conventional renal cell carcinoma? Urology (2005) 0.95

Evaluation of the relationship between caries indices and salivary secretory IgA, salivary pH, buffering capacity and flow rate in children with Down's syndrome. Arch Oral Biol (2005) 0.94

Complications of varicella in healthy children in Izmir, Turkey. Pediatr Int (2005) 0.93

Genotyping of Streptococcus mutans by using arbitrarily primed polymerase chain reaction in children with Down Syndrome. Arch Oral Biol (2005) 0.90

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. Am J Med Genet A (2012) 0.89

Evaluation of QT dispersion in beta thalassaemia major patients. Am J Hematol (2006) 0.89

Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients. Am J Med Genet (2002) 0.88

Does Mycoplasma sp. play role in small cell lung cancer? Lung Cancer (2004) 0.88

Multidrug resistance 1 (MDR1) gene polymorphisms in childhood drug-resistant epilepsy. J Child Neurol (2010) 0.88

Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID. Clin Exp Med (2009) 0.87

The genotoxic effect of radiofrequency waves on mouse brain. J Neurooncol (2011) 0.86

Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation. Horm Res Paediatr (2010) 0.86

Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol (2012) 0.86

Primary male infertility in Izmir/Turkey: a cytogenetic and molecular study of 187 infertile Turkish patients. J Assist Reprod Genet (2011) 0.86

An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project. Hemoglobin (2009) 0.85

Association of interleukin-1beta and interleukin-1 receptor antagonist gene polymorphisms in Turkish children with atopic asthma. Allergy Asthma Proc (2008) 0.84

Might there be a link between mannose binding lectin and vitiligo? Eur J Dermatol (2007) 0.84

Association between IL4 (-590), ACE (I)/(D), CCR5 (Delta32), CTLA4 (+49) and IL1-RN (VNTR in intron 2) gene polymorphisms and vitiligo. Eur J Dermatol (2009) 0.84

Rapid prenatal diagnosis of common aneuploidies in amniotic fluid using quantitative fluorescent polymerase chain reaction. Gynecol Obstet Invest (2008) 0.84

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings. J Neurol (2009) 0.84

MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey. Mol Biol Rep (2009) 0.83

Association between mannose binding lectin polymorphisms and predisposition to bacterial meningitis. Turk J Pediatr (2007) 0.83

A novel mutation in two families with pycnodysostosis. Clin Dysmorphol (2013) 0.83

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Hum Genet (2013) 0.82

Unusual course of an acute lymphoblastic leukemia case with i(9q) as a sole cytogenetic abnormality. Leuk Res (2006) 0.82

Stiffness of the abdominal aorta in beta-thalassemia major patients related with body iron load. J Pediatr Hematol Oncol (2006) 0.82

A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies. J Pediatr Endocrinol Metab (2011) 0.81

Vitamin D receptor gene polymorphism in children with urinary tract infection. Pediatr Nephrol (2011) 0.81

Association between bronchopulmonary dysplasia and MBL2 and IL1-RN polymorphisms. Pediatr Int (2012) 0.80

Exon-3 polymorphism of CTLA-4 gene in Turkish patients with vitiligo. J Dermatol Sci (2005) 0.80

Evaluation of 80 children with prolonged fever. Pediatr Int (2003) 0.80

Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation. Hemoglobin (2015) 0.80

Mannose-binding lectin codon 54 gene polymorphism in relation to risk of nosocomial invasive fungal infection in preterm neonates in the neonatal intensive care unit. J Matern Fetal Neonatal Med (2010) 0.80

HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis. J Pediatr Endocrinol Metab (2004) 0.79

Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view. Eur J Pediatr (2008) 0.79

Adenosine deaminase and xanthine oxidase activities in bladder washing fluid from patients with bladder cancer: a preliminary study. Clin Biochem (2003) 0.79

Sustained improvements in myocardial T2* over 2 years in severely iron-overloaded patients with beta thalassemia major treated with deferasirox or deferoxamine. Am J Hematol (2014) 0.79

The effect of reducing repetition time TR on the measurement of liver R2 for the purpose of measuring liver iron concentration. Magn Reson Med (2010) 0.79

The Association of minor congenital anomalies and childhood cancer. Pediatr Blood Cancer (2011) 0.79

The second case with 47, XY, + 8 [38] / 45, X0. Turk J Pediatr (2002) 0.79

Mannose-binding lectin gene polymorphism and early neonatal outcome in preterm infants. Neonatology (2010) 0.79

Progressive morphea of early childhood tracing Blaschko's lines on the face: involvement of X chromosome monosomy in pathogenesis and clinical prognosis. Int J Dermatol (2011) 0.79

Evaluation of Manisa propolis effect on leukemia cell line by telomerase activity. Leuk Res (2005) 0.79

Celiac disease in children with Down syndrome: importance of follow-up and serologic screening. Pediatr Int (2003) 0.79

Role of angiotensin-converting enzyme gene polymorphisms in children with sepsis and septic shock. Pediatr Int (2008) 0.78

Proven and probable invasive fungal infections in children with acute lymphoblastic leukaemia: results from an university hospital, 2005-2013. Mycoses (2015) 0.78

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. Turk J Pediatr (2003) 0.78

Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. J Child Neurol (2007) 0.78

Genotyping of β-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders. Hemoglobin (2012) 0.77