Sevim Balcı

Hacettepe University — Turkey

Medicine · Health Sciences

21h-index2.1kcitations100works0.02yr avg
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Research Topics

Prenatal Screening and Diagnostics(21), Congenital limb and hand anomalies(14), Genomic variations and chromosomal abnormalities(13), Hedgehog Signaling Pathway Studies(11), Congenital Anomalies and Fetal Surgery(11)

Publications100 total

Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development
Clinical Dysmorphology·2016· 15 cited
Formation of a familial ring chromosome 18 investigated by SNP‐array analysis
American Journal of Medical Genetics Part A·2014· 38 cited
Genetic Counseling in a Case of a Pregnant Woman with Goldenhar Syndrome (Oculoauriculovertebral Spectrum)
SHILAP Revista de lepidopterología·2012Open Access
Prenatally diagnosed case of 22q11.2 deletion syndrome associated with pulmonary artery aneurysm.
PubMed·2012· 1 cited
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::)/46,XX
American Journal of Medical Genetics Part A·2011· 45 cited
Goldenhar syndrome phenotypes and 22q11 deletion
American Journal of Medical Genetics Part A·2011· 8 cited
In Memoriam Ihsan Dogramacı (1915–2010)
American Journal of Medical Genetics Part A·2011
Letters to the Editor
The Cleft Palate-Craniofacial Journal·2010
New syndrome – Situs inversus totalis with cystic dysplasia of kidneys, pancreas and bowing
Clinical Dysmorphology·2010
Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia
The American Journal of Human Genetics·2010· 149 citedOpen Access
Rubinstein–Taybi syndrome in first cousins with different de novo mutations
American Journal of Medical Genetics Part A·2010· 2 cited
Letter to the Editor: Cleft palate and balanced de novo translocation t(6;7)(p25;q31)
The Cleft Palate-Craniofacial Journal·2010
Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy
American Journal of Medical Genetics Part A·2009· 51 cited
A specific mutation in the distant sonic hedgehog (<i>SHH</i>)<i>cis</i>-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
Human Mutation·2009· 128 cited
A 19-year follow-up of a patient with type 3 ectrodactyly–ectodermal dysplasia–clefting syndrome who developed non-Hodgkin lymphoma
Oral Surgery Oral Medicine Oral Pathology Oral Radiology and Endodontology·2009· 14 cited
ALX4 dysfunction disrupts craniofacial and epidermal development
Human Molecular Genetics·2009· 120 citedOpen Access
A well-documented trisomy 13 case presenting with a number of common and uncommon features of the syndrome.
PubMed·2009· 7 citedOpen Access
Early prenatal diagnosis of conjoined twins at 7 weeks and 6 days' gestation with two-dimensional Doppler ultrasound: a case report
Cases Journal·2009· 18 citedOpen Access
Prenatally Diagnosed Ureteropelvic Junction Obstruction in Three Siblings of one Family: A Case Report
SHILAP Revista de lepidopterología·2008Open Access
Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.
PubMed·2008· 9 cited
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Frequent Co-authors

Burhan Say(7), Mehmet Sinan Beksaç(6), Nurten Akarsu(4), Dilek Aktaş(4), Thomas Liehr(4), Özlem Engiz(4), Tuğrul Pırnar(4), Yasemin Alanay(3), İbrahim Vargel(3), Mehmet Alikaşifoğlu(3), Bernd Wollnik(3), Oliver Bartsch(3), Gülçin Altínok(3), Hülya Kayserili(2), Elif Uz(2), Gökhan Tunçbįlek(2), Özgür Deren(2), Kristin Mrasek(2), Celal Tümer(2), Ergül Tunçbılek(2)