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Periodical

Reply to letter from Sevim Balci:

Autor: Digilio, M Cristina

Publikováno v: Genetics in Medicine; February 2007, Vol. 9 Issue: 2 p137-137, 1p

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Imaging Findings of Fetal-Neonatal Ovarian Cysts Complicated With Ovarian Torsion and Autoamputation

Autor: Sevim Balci, Hatice Nursun Ozcan, Arbay O. Ciftci, Altan Güneş, Saniye Ekinci, Mithat Haliloglu, Berna Oguz

Publikováno v: American Journal of Roentgenology. 205:185-189

Large nonresolving neonatal ovarian cysts may be a risk factor for complications such as torsion, mass effect, rupture, intracystic hemorrhage, and autoamputation. Torsed cysts and autoamputated cysts can cause a diagnostic dilemma. The objective of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feff0514df316c8432070444a7a20524
https://doi.org/10.2214/ajr.14.13426

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Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development

Autor: Askin Sen, Leyla Ozer, Evrim Unsal, Volkan Baltaci, Sevim Balci, Pelin Celikkol, O. Ayvaz, Fatma Akyigit, Suleyman Aktuna

Publikováno v: Clinical dysmorphology. 25(3)

Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d44c7894e124b00306296d232f62e2f4
https://pubmed.ncbi.nlm.nih.gov/27100822

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Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)

Autor: Celal Tümer, Oliver Bartsch, Sevim Balci, Çiğdem Tepe Karaca

Publikováno v: American Journal of Medical Genetics Part A. 155:1129-1135

We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b00a724dad746eeabe771243c22e640d
https://doi.org/10.1002/ajmg.a.33868

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Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Autor: Safak Gucer, Nurten A. Akarsu, Ferdinand von Eggeling, Ozgur Deren, Dilek Aktas, Yasemin Alanay, Sevim Balci, Elif Uz, Mehmet Alikasifoglu, Ibrahim Vargel, Nicole Posorski, Hilal Özdağ, Gökhan Tunçbilek, Engin Yilmaz, Thomas Liehr, Bernd Wollnik

Publikováno v: The American Journal of Human Genetics. 86(5):789-796

YILMAZ, Engin/0000-0001-8873-7645; Akarsu, Nurten/0000-0001-5432-0032; Ozdag, Hilal/0000-0001-7940-2499; Liehr, Thomas/0000-0003-1672-3054; Alanay, Yasemin/0000-0003-0683-9731; von Eggeling, Ferdinand/0000-0002-8062-6999 WOS: 000278045300015 PubMed:

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A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination

Autor: T. Haytoglu, Sevim Balci, Muzaffer Eryilmaz, B Onol

Publikováno v: Clinical Genetics. 51:412-416

Carpenter syndrome (acrocephalopolysyndactyly type II) is an autosomal recessive syndrome. The case we present was diagnosed prenatally at 20 weeks. Postmortem examination revealed severe central nervous system malformations. The central nervous syst

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https://doi.org/10.1111/j.1399-0004.1997.tb02501.x

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Corneal opacity, microphthalmia, mental retardation, microcephaly and generaIized muscular spasticity associated with hypergIycinemia

Autor: T. Firat, Burhan Say, Sevim Balci

Publikováno v: Clinical Genetics. 5:36-39

A 5-year-old girl with an oculo-cerahral syndrome born to consanguineous parents is presented. The patient had glycinuria in addition to the usual findings of cloudy corneas, spastic diplegia and motor and mental retardation encountered in patients w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71518246471c586af2c623876edf61d1
https://doi.org/10.1111/j.1399-0004.1974.tb01656.x

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Identifying the etiologic role of Parvovirus B19 in non-immune hydrops fetalis by histopathology, immunohistochemistry and nucleic acid testing: a retrospective study

Autor: Arzu Sungur, Bora Gurel, Sevim Balci, Koray Ergünay, Şemsettin Ustaçelebi, Gülçin Altinok, Ahmet Pinar

Publikováno v: Open Medicine, Vol 2, Iss 3, Pp 271-279 (2007)

Intrauterine Parvovirus B19 infections may cause fetal anemia, non-immune hydrops fetalis or abortion. This study focuses on the pathogenic role of Parvovirus B19 in non-immune hydrops fetalis at Hacettepe University, a major reference hospital in Tu

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https://doi.org/10.2478/s11536-007-0029-z

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Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3)

Autor: Thomas Liehr, Ozlem Engiz, Serap Saygi, Dilek Aktas, Kristin Mrasek, Sevim Balci, Aysun Ünal, Madelaine Gross

Publikováno v: Developmental Medicine & Child Neurology. 49:219-224

Periventricular nodular heterotopia (PNH) is a rare neuronal migration disorder in which immature neurons fail to undergo a directed migration from the ventricular and subventricular zones to the cerebral cortex. Classic PNH occurs predominantly in f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::315752a3d4bb8e48ed2e4bb27afeb4cd
https://doi.org/10.1111/j.1469-8749.2007.00219.x

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