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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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Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1

Nature genetics, 2012-06, Vol.44 (6), p.709-713

2012

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Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

Proceedings of the National Academy of Sciences - PNAS, 2008-03, Vol.105 (11), p.4232-4236

2008

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Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

American journal of human genetics, 2016-08, Vol.99 (2), p.299-317

2016

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Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses

PloS one, 2008-08, Vol.3 (8), p.e2966-e2966

2008

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Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity

European journal of human genetics : EJHG, 2006-06, Vol.14 (6), p.791-797

2006

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Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon‐like craniosynostosis

Molecular genetics & genomic medicine, 2013-11, Vol.1 (4), p.223-237

2013

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Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion

Proceedings of the National Academy of Sciences - PNAS, 2008-06, Vol.105 (23), p.E32-E33

2008

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Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers

International journal of biological macromolecules, 2020-11, Vol.162, p.1166-1177

2020

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STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

Clinical immunology (Orlando, Fla.), 2015-12, Vol.161 (2), p.316-323

2015

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Assessing the Functional Properties of the TMCO1 Sequence Variants by Using In Silico Analyses

Düzce Üniversitesi bilim ve teknoloji dergisi (Online), 2019-07, Vol.7 (3), p.1931-1946

2019

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Intracerebroventricularly injected nesfatin-1 activates central cyclooxygenase and lipoxygenase pathways

Autonomic neuroscience, 2020-07, Vol.226, p.102670-102670, Article 102670

2020

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Identification of ALX3 Gene Promoter Hypermethylation as a Potential Biomarker for Lung Cancer

Anticancer research, 2023-07, Vol.43 (7), p.3029-3036

2023

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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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Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases

Arthritis research & therapy, 2009-01, Vol.11 (4), p.R106-R106

2009

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The effects of calcium channel blockers on nephropathy and pigment epithelium-derived factor in the treatment of hypertensive patients with type 2 diabetes mellitus

Clinical and experimental hypertension (1993), 2015-01, Vol.37 (3), p.177-183

2015

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TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.291-304

2014

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Agranulocytosis related to clozapine in monozygotic twins and association with allelic variants of multidrug resistance gene MDR1

Journal of clinical psychopharmacology, 2011-04, Vol.31 (2), p.247-249

2011

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Skewed X-Chromosome Inactivation in Scleroderma

Clinical reviews in allergy & immunology, 2008-06, Vol.34 (3), p.352-355

2008

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Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis

Arthritis and rheumatism, 2009-11, Vol.60 (11), p.3410-3412

2009

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Extremely skewed X-chromosome inactivation is increased in pre-eclampsia

Human genetics, 2007-03, Vol.121 (1), p.101-105

2007

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X-Chromosome Inactivation in Female Predisposition to Autoimmunity

Uz, Elif

2008

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Mutations in the interleukin receptor IL 11 RA cause autosomal recessive Crouzon‐like craniosynostosis

Molecular genetics & genomic medicine, 2013-11, Vol.1 (4), p.223-237

2013

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Mystery of the unknown: revisiting tacit knowledge in the organizational literature

Journal of knowledge management, 2011-01, Vol.15 (3), p.445-461

2011

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

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses

Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon‐like craniosynostosis

Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion

Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

Assessing the Functional Properties of the TMCO1 Sequence Variants by Using In Silico Analyses

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Intracerebroventricularly injected nesfatin-1 activates central cyclooxygenase and lipoxygenase pathways

Identification of ALX3 Gene Promoter Hypermethylation as a Potential Biomarker for Lung Cancer

ALX4 dysfunction disrupts craniofacial and epidermal development

Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases

The effects of calcium channel blockers on nephropathy and pigment epithelium-derived factor in the treatment of hypertensive patients with type 2 diabetes mellitus

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia

Agranulocytosis related to clozapine in monozygotic twins and association with allelic variants of multidrug resistance gene MDR1

Skewed X-Chromosome Inactivation in Scleroderma

Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis

Extremely skewed X-chromosome inactivation is increased in pre-eclampsia

X-Chromosome Inactivation in Female Predisposition to Autoimmunity

Mutations in the interleukin receptor IL 11 RA cause autosomal recessive Crouzon‐like craniosynostosis

Mystery of the unknown: revisiting tacit knowledge in the organizational literature

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