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

American journal of human genetics, 2010-05, Vol.86 (5), p.789-796

2010

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LIMB ANOMALIES AND ANEMIA: AASE-SMITH SYNDROME

Fetal and pediatric pathology, 2008-01, Vol.27 (6), p.292-293

Balci, Sevim

2008

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Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

American journal of human genetics, 2003-10, Vol.73 (4), p.791-800

2003

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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Nature genetics, 2000-08, Vol.25 (4), p.423-426

2000

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Complex conotruncal cardiac anomalies consecutively in three siblings from a consanguineous family possibly associated with maternal hyperhomocysteinemia

Archives of gynecology and obstetrics, 2007-11, Vol.276 (5), p.547-549

2007

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Situs inversus totalis, renal and pancreatic dysplasia, and cysts as an autosomal recessive new entity?

Genetics in medicine, 2007-02, Vol.9 (2), p.137; author reply 137-137

Balci, Sevim

2007

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To the memory of Robert J. Gorlin

Genetics in medicine, 2007-03, Vol.9 (3), p.195

Balci, Sevim

2007

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ALX4 dysfunction disrupts craniofacial and epidermal development

Human molecular genetics, 2009-11, Vol.18 (22), p.4357-4366

2009

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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

Human mutation, 2010-01, Vol.31 (1), p.81-89

2010

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Prenatally diagnosed ureteropelvic junction obstruction in three siblings of one family: A case report

Gynecology, obstetrics & reproductive medicine : GORM, 2008-12, Vol.14 (3), p.193-195

2008

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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 endodontics, 2009-09, Vol.108 (3), p.e91-e95

2009

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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

Central European journal of medicine, 2007-09, Vol.2 (3), p.271-279

2007

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

Clinical dysmorphology, 2016-07, Vol.25 (3), p.91-97

2016

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

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1854-1856

2014

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Letters to the Editor

The Cleft palate-craniofacial journal, 2010-07, Vol.47 (4), p.431-432

2010

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Letters to the Editor

The Cleft palate-craniofacial journal, 2010-07, Vol.47 (4), p.431-432

2010

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Letter to the Editor: Cleft palate and balanced de novo translocation t(6;7)(p25;q31)

The Cleft palate-craniofacial journal, 2010-02, p.100611121139056

2010

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In Memoriam Ihsan Dogramacı (1915-2010)

American journal of medical genetics. Part A, 2011-02, Vol.155A (2), p.295-296

Balci, Sevim

2011

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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::)/46,XX

American journal of medical genetics. Part A, 2011-05, Vol.155 (5), p.1129-1135

2011

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

American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.1036-1038

2010

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31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings

Genetic counseling, 2007-01, Vol.18 (3), p.277

2007

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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)

Developmental medicine and child neurology, 2007-03, Vol.49 (3), p.219-224

2007

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

Turkish journal of pediatrics, 2012-01, Vol.54 (1), p.74-76

2012

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Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). Letter

The Cleft palate-craniofacial journal, 2010-07, Vol.47 (4), p.431-432

2010

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New syndrome--situs inversus totalis with cystic dysplasia of kidneys, pancreas and bowing

Clinical dysmorphology, 2010-07, Vol.19 (3), p.173-174

2010

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

LIMB ANOMALIES AND ANEMIA: AASE-SMITH SYNDROME

Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Complex conotruncal cardiac anomalies consecutively in three siblings from a consanguineous family possibly associated with maternal hyperhomocysteinemia

Situs inversus totalis, renal and pancreatic dysplasia, and cysts as an autosomal recessive new entity?

To the memory of Robert J. Gorlin

ALX4 dysfunction disrupts craniofacial and epidermal development

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

Prenatally diagnosed ureteropelvic junction obstruction in three siblings of one family: A case report

A 19-year follow-up of a patient with type 3 ectrodactyly–ectodermal dysplasia–clefting syndrome who developed non-Hodgkin lymphoma

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

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

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

Letters to the Editor

Letters to the Editor

Letter to the Editor: Cleft palate and balanced de novo translocation t(6;7)(p25;q31)

In Memoriam Ihsan Dogramacı (1915-2010)

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

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

31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings

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)

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

Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). Letter

New syndrome--situs inversus totalis with cystic dysplasia of kidneys, pancreas and bowing

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