Cargando…

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene

Pseudohypoparathyroidism type Ia (PHP-Ia) is characterized by multihormone resistance and an Albright hereditary osteodystrophy (AHO) phenotype. It is caused by heterozygous mutations in GNAS gene. Clinical and biochemical findings of a female PHP-Ia patient were evaluated from age of diagnosis (6.5...

Descripción completa

Detalles Bibliográficos
Autores principales:	Şahin, Sezgin, Hiort, Olaf, Thiele, Susanne, Evliyaoğlu, Olcay, Tüysüz, Beyhan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363169/ https://www.ncbi.nlm.nih.gov/pubmed/27425121 http://dx.doi.org/10.4274/jcrpe.3191

Ejemplares similares

A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene
por: Thiele, Susanne, et al.
Publicado: (2015)

A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia
por: Nakamura, Akie, et al.
Publicado: (2011)

Long−Term Follow−Up of a Pseudohypoparathyroidism Type 1A Patient with Missense Mutation (Pro115Ser) in Exon 5
por: Erdeve, Şenay Savaş, et al.
Publicado: (2010)

A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype
por: Gorbacheva, Anna, et al.
Publicado: (2023)

Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation
por: Kagami, Ryosuke, et al.
Publicado: (2020)

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects
por: Rochtus, Anne, et al.
Publicado: (2016)

Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS
por: Swieringa, Frauke, et al.
Publicado: (2020)

Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus
por: Perez-Nanclares, Gustavo, et al.
Publicado: (2015)

GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders
por: Lemos, Manuel C, et al.
Publicado: (2015)

Longitudinal Growth of the Short Bones of the Hand in a Girl with Pseudohypoparathyroidism Type Ia
por: Nagasaki, Keisuke, et al.
Publicado: (2007)

A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy
por: Kodo, Kazuki, et al.
Publicado: (2019)

Rare Case of Pseudohypoparathyroidism With Normocalcemia Because of a Novel GNAS Mutation
por: Mangu, Goutami, et al.
Publicado: (2023)

A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
por: Paolo, Cavarzere, et al.
Publicado: (2022)

Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene
por: Lemos, Manuel C., et al.
Publicado: (2015)

Correction to: A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
por: Cavarzere, Paolo, et al.
Publicado: (2022)

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A
por: Munteanu, Martin, et al.
Publicado: (2019)

Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia
por: Long, Xiao-dan, et al.
Publicado: (2018)

Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption
por: de Sanctis, L., et al.
Publicado: (2016)

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia
por: Lee, Ye Seung, et al.
Publicado: (2014)

Two Cases of Pseudohypoparathyroidism Type Ia in Duozygotic Twins with Different Phenotypes
por: Nagasaki, Keisuke, et al.
Publicado: (2005)

Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases
por: Elli, Francesca Marta, et al.
Publicado: (2018)

Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism
por: Fei, Yangfan, et al.
Publicado: (2023)

A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family
por: Apetrei, Andreea, et al.
Publicado: (2021)

SAT-039 GNAS-miRNAs Are Likely Involved in the Phenotype of Patients with Pseudohypoparathyroidism 1B/iPPSD3
por: Hanna, Patrick, et al.
Publicado: (2019)

The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis
por: Iwasaki, Yorihiro, et al.
Publicado: (2023)

Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene
por: Özcabı, Bahar, et al.
Publicado: (2015)

MON-252 An Unusual Presentation of Pseudohypoparathyroidism Type 1a Associated with a Novel GNAS Mutation and Vitamin D Deficiency
por: Bruggeman, Brittany, et al.
Publicado: (2019)

Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family
por: Debbabi, Wided, et al.
Publicado: (2022)

Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female
por: Raghavan, Pooja, et al.
Publicado: (2012)

A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report
por: Lu, Difei, et al.
Publicado: (2021)

First Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients
por: Karaca, Emin, et al.
Publicado: (2012)

Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation
por: Wankanit, Somboon, et al.
Publicado: (2022)

Puberty and Pubertal Growth in Healthy Turkish Girls: No evidence for secular trend
por: Bundak, Rüveyde, et al.
Publicado: (2008)

The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?
por: Kashani, Paria, et al.
Publicado: (2016)

Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report
por: Tang, Yuchen, et al.
Publicado: (2020)

Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3
por: Elli, F. M., et al.
Publicado: (2019)

Management of pseudohypoparathyroidism
por: Germain-Lee, Emily L.
Publicado: (2019)

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group
por: Darendeliler, Feyza, et al.
Publicado: (2015)

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
por: Mantovani, Giovanna, et al.
Publicado: (2018)

Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas
por: Güneş, Nilay, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_sukgr623i26l29pcqag6lsjdfv