Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

Uz, Elif; Alanay, Yasemin; Aktas, Dilek; Vargel, Ibrahim; Gucer, Safak; Tuncbilek, Gokhan; von Eggeling, Ferdinand; Yilmaz, Engin; Deren, Ozgur; Posorski, Nicole; Ozdag, Hilal; Liehr, Thomas; Balci, Sevim; Alikasifoglu, Mehmet; Wollnik, Bernd; Akarsu, Nurten A.

Am J Hum Genet ; 86(5): 789-96, 2010 May 14.

Artigo em Inglês | MEDLINE | ID: mdl-20451171

2.

Prenatally diagnosed case of 22q11.2 deletion syndrome associated with pulmonary artery aneurysm.

Ozer, Leyla; Lembet, Arda; Ugurlu, Nil; Baltaci, Volkan; Balci, Sevim.

Turk J Pediatr ; 54(1): 74-6, 2012.

Artigo em Inglês | MEDLINE | ID: mdl-22397049

3.

ALX4 dysfunction disrupts craniofacial and epidermal development.

Kayserili, Hulya; Uz, Elif; Niessen, Carien; Vargel, Ibrahim; Alanay, Yasemin; Tuncbilek, Gokhan; Yigit, Gokhan; Uyguner, Oya; Candan, Sukru; Okur, Hamza; Kaygin, Serkan; Balci, Sevim; Mavili, Emin; Alikasifoglu, Mehmet; Haase, Ingo; Wollnik, Bernd; Akarsu, Nurten Ayse.

Hum Mol Genet ; 18(22): 4357-66, 2009 Nov 15.

Artigo em Inglês | MEDLINE | ID: mdl-19692347

4.

Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11âq21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11âq21::)/46,XX.

Balci, Sevim; Tümer, Celal; Karaca, Cigdem; Bartsch, Oliver.

Am J Med Genet A ; 155A(5): 1129-35, 2011 May.

Artigo em Inglês | MEDLINE | ID: mdl-21484996

5.

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.

Wieczorek, Dagmar; Pawlik, Barbara; Li, Yun; Akarsu, Nurten A; Caliebe, Almuth; May, Klaus J W; Schweiger, Bernd; Vargas, Fernando R; Balci, Sevim; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd.

Hum Mutat ; 31(1): 81-9, 2010 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-19847792

6.

Formation of a familial ring chromosome 18 investigated by SNP-array analysis.

Balci, Sevim; Zschocke, Johannes; Kotzot, Dieter; Ergün, Mehmet Ali; Spreiz, Ana.

Am J Med Genet A ; 164A(7): 1854-6, 2014 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-24677800

7.

Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy.

Soysal, Yasemin; Balci, Sevim; Hekimler, Kuyas; Liehr, Thomas; Ewers, Elisabeth; Schoumans, Jacqueline; Bui, The-Hung; Içduygu, Fadime Mutlu; Kosyakova, Nadezda; Imirzalioglu, Necat.

Am J Med Genet A ; 149A(12): 2782-7, 2009 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-19921639

8.

Approach in an adolescent Proteus male patient with megafoot.

Derman, Orhan; Balci, Sevim; Engiz, Ozlem.

Turk J Pediatr ; 50(2): 200-3, 2008.

Artigo em Inglês | MEDLINE | ID: mdl-18664091

9.

A well-documented trisomy 13 case presenting with a number of common and uncommon features of the syndrome.

Balci, Sevim; Güçer, Safak; Orhan, Diclehan; Karagöz, Tevfik.

Turk J Pediatr ; 50(6): 595-9, 2008.

Artigo em Inglês | MEDLINE | ID: mdl-19227428

10.

Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.

Orhan, Diclehan; Balci, Sevim; Deren, Ozgür; Utine, Eda Gülen; Basaran, Ahmet; Kale, Gülsev.

Turk J Pediatr ; 50(4): 395-9, 2008.

Artigo em Inglês | MEDLINE | ID: mdl-19014058

11.

Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report.

Balci, Sevim; Ergün, Mehmet Ali; Yüksel-Konuk, E Berrin; Bartsch, Oliver.

Turk J Pediatr ; 50(3): 265-8, 2008.

Artigo em Inglês | MEDLINE | ID: mdl-18773673

12.

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Frank, Valeska; Ortiz Brüchle, Nadina; Mager, Silke; Frints, Susanna G M; Bohring, Axel; du Bois, Gabriele; Debatin, Irmgard; Seidel, Heide; Senderek, Jan; Besbas, Nesrin; Todt, Unda; Kubisch, Christian; Grimm, Tiemo; Teksen, Fulya; Balci, Sevim; Zerres, Klaus; Bergmann, Carsten.

Hum Mutat ; 28(6): 638-9, 2007 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-17437276

13.

In memoriam Ihsan Dogramaci (1915-2010).

Balci, Sevim.

Am J Med Genet A ; 155A(2): 295-6, 2011 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-21271644

14.

Goldenhar syndrome phenotypes and 22q11 deletion.

Balci, Sevim; Engiz, Ozlem.

Am J Med Genet A ; 155A(2): 458, 2011 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-21271674

15.

Effective treatment of multifocal aggressive fibromatosis with low-dose chemotherapy.

Caglar, Kudret; Ozyönüm, Hasan; Akalin, Minel; Balci, Sevim.

Turk J Pediatr ; 48(4): 365-8, 2006.

Artigo em Inglês | MEDLINE | ID: mdl-17290575

16.

A 13-year-old female with Turner syndrome and achalasia.

Balci, Sevim; Akcan, Abdullah Baris; Senocak, Mehmet Emin; Ciftçi, Arbay Ozden; Ozaltin, Fatih.

Turk J Pediatr ; 48(3): 272-4, 2006.

Artigo em Inglês | MEDLINE | ID: mdl-17172077

17.

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

Ozer, Leyla; Unsal, Evrim; Aktuna, Suleyman; Baltaci, Volkan; Celikkol, Pelin; Akyigit, Fatma; Sen, Askin; Ayvaz, Ozge; Balci, Sevim.

Clin Dysmorphol ; 25(3): 91-7, 2016 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-27100822

18.

Rubinstein-Taybi syndrome in first cousins with different de novo mutations.

Balci, Sevim; Ali Ergün, Mehmet; Lechno, Stanislav; Bartsch, Oliver.

Am J Med Genet A ; 152A(4): 1036-8, 2010 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-20358623

19.

Variable expressivity of congenital longitudinal radial deficiency and spinal dysraphism in monozygotic twins.

Leblebicioglu, Gürsel; Balci, Sevim; Uzümcügil, Akin.

Turk J Pediatr ; 47(4): 390-2, 2005.

Artigo em Inglês | MEDLINE | ID: mdl-16363354

20.

An anencephalic monocephalus diprosopus "headed twin": postmortem and CT findings with emphasis on the cranial bones.

Ekinci, Gazanfer; Balci, Sevim; Erzen, Canan.

Turk J Pediatr ; 47(2): 195-8, 2005.

Artigo em Inglês | MEDLINE | ID: mdl-16052866

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