Search Results - "Taçoy, Sükran"
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Recent Advances in Craniosynostosis
Published in Pediatric neurology (01-10-2019)“…Craniosynostosis is a pathologic craniofacial disorder and is defined as the premature fusion of one or more cranial (calvarial) sutures. Cranial sutures are…”
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Aplasia cutis congenita: three cases with three different underlying etiologies
Published in Turkish journal of pediatrics (01-09-2009)“…Aplasia cutis congenita (ACC) is an uncommon condition in which localized or widespread areas of skin are absent or scarred at birth. There is no single…”
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Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies
Published in Turkish journal of pediatrics (01-09-2009)“…Subtelomeric rearrangements are an important cause of both sporadic and familial idiopathic mental retardation (MR) and/or congenital malformation syndromes…”
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Maternal origin and clinical findings in a case with trisomy 22
Published in Turkish journal of pediatrics (01-07-2007)“…We report a newborn girl with multiple congenital anomalies whose chromosomal analysis showed complete trisomy 22. Her phenotype included microcephaly,…”
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PHACES syndrome presenting as hemangiomas, sternal clefting and congenital ulcerations on the helices
Published in Journal of dermatology (01-03-2006)“…ABSTRACT Sternal malformation/vascular dysplasia association is a very rare condition comprised of midline defects and hemangiomas of the face and anterior…”
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Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome
Published in American journal of medical genetics (01-09-2002)Get full text
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Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome
Published in American journal of medical genetics (01-09-2002)Get full text
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Neutrophil oxidative metabolism in Down syndrome patients with congenital heart defects
Published in Environmental and molecular mutagenesis (2010)“…Down syndrome (DS) occurs when an individual has three, rather than two, copies of the 21st chromosome. Cytosolic superoxide dismutase (SOD-1) is encoded by a…”
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Oral-facial digital syndrome type 1
Published in Indian pediatrics (01-11-2007)“…The oral-facial-digital syndrome type 1 is characterized by following abnormalities: pseudocleft of the upper lip, tongue lobulation, hamartomata on the…”
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A case of Costello with parathyroid adenoma and hyperprolactinemia
Published in American journal of medical genetics. Part A (15-01-2004)“…A 23‐year‐old female with Costello syndrome is presented. She had mental retardation, macrocephalia, “coarse” facial features, deep palmar and plantar creases,…”
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Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical, and pathological findings
Published in Fetal diagnosis and therapy (01-05-2005)“…We report a case of Neu-Laxova syndrome in a fetus at 22 weeks with the ultrasonographic findings of characteristic facial findings, limb contractures,…”
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Supravalvular aortic stenosis in cutis laxa syndrome: a case report
Published in International journal of cardiology (01-05-2002)Get full text
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PHACES syndrome presenting as hemangiomas, sternal clefting and congenital ulcerations on the helices
Published in The Journal of Dermatology (01-03-2006)Get full text
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A case of Costello with parathyroid adenoma and hyperprolactinemia
Published in American Journal of Medical Genetics Part A (15-01-2004)Get full text
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Tc-99m HMDP uptake by the kidney in sickle cell disease
Published in Clinical nuclear medicine (01-03-1992)Get more information
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Supravalvular aortic stenosis in cutis laxa syndrome: a case report
Published in International journal of cardiology (01-05-2002)Get full text
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