Compound heterozygous mutations of the AIRE-1 gene causing autoimmune polyendocrinopathy type 1.

ग्रंथसूची विवरण
मुख्य लेखकों:	Bowl, MR, Turner, J, Nesbit, M, Harding, B, Thakker, R
स्वरूप:	Journal article
प्रकाशित:	2001

Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1.
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A novel compound heterozygous mutation of the gene in a patient with autoimmune polyendocrine syndrome type 1
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Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation
द्वारा: Donatella Capalbo, और अन्य
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द्वारा: Sakeen W. Kashem, और अन्य
प्रकाशित: (2017-01-01)

Microangiopathic complications in type 1 diabetes mellitus: differences in severity when isolated or associated with autoimmune polyendocrinopathies
द्वारा: Patrícia Teófilo Monteagudo, और अन्य

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
द्वारा: Mirczuk, S, और अन्य
प्रकाशित: (2010)

Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient
द्वारा: María Isabel Luis-Yanes, और अन्य
प्रकाशित: (2020-11-01)

Infertility due to lack of zona pellucida caused by a compound heterozygous mutation in ZP1 gene
द्वारा: Zheng Zhang, और अन्य
प्रकाशित: (2018-01-01)

X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
द्वारा: Bowl, MR, और अन्य
प्रकाशित: (2001)

Reversible adrenal insufficiency and heterophile antibodies in a case of autoimmune polyendocrinopathy syndrome
द्वारा: Sandeep Kharb, और अन्य
प्रकाशित: (2013-01-01)

Clinical, histological and genetic findings in a donor with a clinical history of type 1 Autoimmune Polyendocrinopathy Syndrome
द्वारा: Catherine J. Culp, और अन्य
प्रकाशित: (2022-03-01)

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.
द्वारा: Hannan, F, और अन्य
प्रकाशित: (2008)

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
द्वारा: Bergithe E. Oftedal, और अन्य
प्रकाशित: (2023-06-01)

A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association.
द्वारा: Nithiyananthan, R, और अन्य
प्रकाशित: (2000)

A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations
द्वारा: Adolfredo Santana, और अन्य
प्रकाशित: (2018-12-01)

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy
द्वारा: Obaid Imtiyazul Haque, और अन्य
प्रकाशित: (2022-12-01)

Renal disorders in Autoimmune Polyendocrinopathy Candidiasis Ectodermal dystrophy (APECED): a systematic review
द्वारा: Mohammadreza Shafiei, और अन्य
प्रकाशित: (2025-02-01)

Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report
द्वारा: Margherita S. Silani, और अन्य
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Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
द्वारा: Florica Sandru, और अन्य
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द्वारा: Shuang Cai, और अन्य
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Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
द्वारा: Ziyu Ren, और अन्य
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Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
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Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B
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ORAL FINDINGS AND CLINICAL BEHAVIOR IN PATIENT HAVING AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY (APECED)
द्वारा: Kremena Markova, और अन्य
प्रकाशित: (2024-10-01)

Gastrointestinal manifestations in autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED) patient: major effect on treatment and prognosis
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प्रकाशित: (2023-04-01)

Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome: a paradigm of immunodeficiency with autoimmunity
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X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
द्वारा: Andrew Nesbit, M, और अन्य
प्रकाशित: (2004)

Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations
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Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
द्वारा: Mehta, P, और अन्य
प्रकाशित: (2012)

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20
द्वारा: Yuqi Shao, और अन्य
प्रकाशित: (2024-04-01)

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
द्वारा: Yuqing Xu, और अन्य
प्रकाशित: (2023-06-01)

Fatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
द्वारा: Stephanie A. Kubala, और अन्य
प्रकाशित: (2021-01-01)

Compound heterozygous mutation of SLC25A1 gene in glutaric aciduria type 2
द्वारा: Karthikeyan Kadirvel, और अन्य
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A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene
द्वारा: Jinhee Lee, और अन्य
प्रकाशित: (2022-03-01)

Compound heterozygous mutations of the AIRE-1 gene causing autoimmune polyendocrinopathy type 1.

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