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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

The Journal of clinical investigation, 2003-08, Vol.112 (3), p.450-456

2003

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

Nature genetics, 2000-06, Vol.25 (2), p.173-176

2000

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Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Cell, 2000-09, Vol.102 (5), p.565-575

2000

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Transient hypogammaglobulinemia of infancy: Clinical and immunologic features of 40 new cases

Pediatrics international, 2000-12, Vol.42 (6), p.647-650

2000

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Mutations in Igα (CD79a) result in a complete block in B-cell development

The Journal of clinical investigation, 1999-10, Vol.104 (8), p.1115-1121

1999

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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

The Journal of clinical investigation, 2003-08, Vol.112 (3), p.450-456

2003

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Clinical features of chronic granulomatous disease: a series of 26 patients from a single center

Turkish journal of pediatrics, 2010-11, Vol.52 (6), p.576-581

2010

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A family with hyperimmunoglobulin M syndrome and systemic amyloidosis

Nephrology, dialysis, transplantation, 2000-09, Vol.15 (9), p.1480-1482

2000

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Griscelli disease: Genotype-phenotype correlation in an array of clinical heterogeneity

Journal of clinical immunology, 2002-07, Vol.22 (4), p.237-243

2002

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The efficacy of immunoglobulin replacement therapy in the long-term follow-up of the B-cell deficiencies (XLA, HIM, CVID)

Turkish journal of pediatrics, 2005-07, Vol.47 (3), p.239-246

2005

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Two Genes Are Responsible for Griscelli Syndrome at the Same 15q21 Locus

Genomics (San Diego, Calif.), 2000-02, Vol.63 (3), p.299-306

2000

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Polymorphism of the Fourth Component of Complement in Turks

Human biology, 2000-06, Vol.72 (3), p.527-533

2000

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Localization of an ataxia-telangiectasia gene to chromosome 11q22-23

Nature (London), 1988-12, Vol.336 (6199), p.577-580

1988

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The European Society for Immunodeficiencies (ESID) registry 2014

Clinical and experimental immunology, 2014-12, Vol.178 (S1), p.18-20

Grimbacher, B.

2014

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Lack of association between TLR4 polymorphism and severe gram-negative bacterial infection in neonates

Turkish Journal of Medical Sciences, 2009-06, Vol.39 (3), p.423-427

ÖZGÜR, Tuba TURUL

2009

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Association of tumour necrosis factor-alpha -308 G/A polymorphism with primary open-angle glaucoma

Clinical & experimental ophthalmology, 2012-05, Vol.40 (4), p.e156-e162

2012

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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

The Journal of clinical investigation, 2005-04, Vol.115 (4), p.1100-1100

Menasche, G.

2005

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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

The Journal of clinical investigation, 2005-04, Vol.115 (4), p.1100-1100

2005

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Common variable immunodeficiency in a patient with neurofibromatosis

Pediatrics international, 2001-12, Vol.43 (6), p.691-693

2001

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A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis

The Pediatric infectious disease journal, 2007-04, Vol.26 (4), p.366-368

2007

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The Effect of IVIG on Superoxide Generation in Primary Humoral Immunodeficiencies

Annals of Clinical and Analytical Medicine, 2015-06, Vol.6 (Suppl_3)

2015

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Altered apoptotic profiles in irradiated patients with increased toxicity

International journal of radiation oncology, biology, physics, 1999-10, Vol.45 (3), p.707-714

1999

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MALIGNANT SOLID TUMORS ASSOCIATED WITH CONGENITAL IMMUNODEFICIENCY DISORDERS

Pediatric hematology and oncology, 2004-07, Vol.21 (5), p.441-451

2004

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The relationship between periodontal status and peripheral levels of neutrophils in two consanguineous siblings with severe congenital neutropenia: case reports

Quintessence international (Berlin, Germany : 1985), 2003-03, Vol.34 (3), p.221

2003

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A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase

Turkish journal of pediatrics, 2006-10, Vol.48 (4), p.362-364

2006

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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Transient hypogammaglobulinemia of infancy: Clinical and immunologic features of 40 new cases

Mutations in Igα (CD79a) result in a complete block in B-cell development

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Clinical features of chronic granulomatous disease: a series of 26 patients from a single center

A family with hyperimmunoglobulin M syndrome and systemic amyloidosis

Griscelli disease: Genotype-phenotype correlation in an array of clinical heterogeneity

The efficacy of immunoglobulin replacement therapy in the long-term follow-up of the B-cell deficiencies (XLA, HIM, CVID)

Two Genes Are Responsible for Griscelli Syndrome at the Same 15q21 Locus

Polymorphism of the Fourth Component of Complement in Turks

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23

The European Society for Immunodeficiencies (ESID) registry 2014

Lack of association between TLR4 polymorphism and severe gram-negative bacterial infection in neonates

Association of tumour necrosis factor-alpha -308 G/A polymorphism with primary open-angle glaucoma

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Common variable immunodeficiency in a patient with neurofibromatosis

A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis

The Effect of IVIG on Superoxide Generation in Primary Humoral Immunodeficiencies

Altered apoptotic profiles in irradiated patients with increased toxicity

MALIGNANT SOLID TUMORS ASSOCIATED WITH CONGENITAL IMMUNODEFICIENCY DISORDERS

The relationship between periodontal status and peripheral levels of neutrophils in two consanguineous siblings with severe congenital neutropenia: case reports

A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase

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