Cargando…

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-ol...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lee, Ye Seung, Kim, Hui Kwon, Kim, Hye Rim, Lee, Jong Yoon, Choi, Joong Wan, Bae, Eun Ju, Oh, Phil Soo, Park, Won Il, Ki, Chang Seok, Lee, Hong Jin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Pediatric Society 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102687/ https://www.ncbi.nlm.nih.gov/pubmed/25045367 http://dx.doi.org/10.3345/kjp.2014.57.5.240

Ejemplares similares

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

Hutchinson-Gilford Progeria Syndrome with G608G LMNA Mutation
por: Kim, Hui Kwon, et al.
Publicado: (2011)

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

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

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

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)

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

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

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

The corrected QT (QTc) prolongation in hyperthyroidism and the association of thyroid hormone with the QTc interval
por: Lee, Ye Seung, et al.
Publicado: (2015)

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

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

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene
por: Şahin, Sezgin, et al.
Publicado: (2017)

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)

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)

Humerus Varus in a Patient with Pseudohypoparathyroidism
por: Cho, Tae-Joon, et al.
Publicado: (2005)

Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese
por: Wu, Yi-Lei, et al.
Publicado: (2014)

Induction of Ia Antigens on Synovial Cells by Gamma Interferon
por: Kim, Seong-Yoon, et al.
Publicado: (1987)

Intracranial Cortical Calcifications in a Focal Epilepsy Patient with Pseudohypoparathyroidism
por: Kim, Ye Sel, et al.
Publicado: (2016)

Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant
por: Hwang, Su Kyeong, et al.
Publicado: (2022)

Pseudohypoparathyroidism: phenotypic spectrum in kindred
por: Natino, Antonette A A, et al.
Publicado: (2015)

Paroxysmal dyskinesia and epilepsy in pseudohypoparathyroidism
por: Zhang, Chao, et al.
Publicado: (2020)

Molecular Definition of Pseudohypoparathyroidism Variants
por: Jüppner, Harald
Publicado: (2021)

Fahr Syndrome Secondary to Pseudohypoparathyroidism
por: Shu, Sharon W, et al.
Publicado: (2023)

Identification of a Novel Mutation in a Pseudohypoparathyroidism Family
por: Miao, Zhi-Min, et al.
Publicado: (2011)

Assessment of Blood-Brain Barrier Permeability by Dynamic Contrast-Enhanced MRI in Transient Middle Cerebral Artery Occlusion Model after Localized Brain Cooling in Rats
por: Kim, Eun Soo, et al.
Publicado: (2016)

Effect of Rivastigmine on Behavioral and Psychiatric Symptoms of Parkinson’s Disease Dementia
por: Oh, Yoon-Sang, et al.
Publicado: (2015)

Neuropsychiatric phenotype in a child with pseudohypoparathyroidism
por: Visconti, Paola, et al.
Publicado: (2016)

Pseudohypoparathyroidism Causing Multiple Brain Calcifications
por: Kobayashi, Yuya, et al.
Publicado: (2017)

Calcitriol and Levothyroxine Dosing for Patients With Pseudohypoparathyroidism
por: Antoun, Jacqueline, et al.
Publicado: (2021)

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

Evaluation of Reperfused Myocardial Infarction by Low-Dose Multidetector Computed Tomography Using Prospective Electrocardiography (ECG)-Triggering: Comparison with Magnetic Resonance Imaging
por: Gweon, Hye Mi, et al.
Publicado: (2010)

Neuropsychiatric Symptoms in Parkinson’s Disease Dementia Are Associated with Increased Caregiver Burden
por: Oh, Yoon-Sang, et al.
Publicado: (2015)

Can simple trachelectomy or conization show comparable survival rate compared with radical trachelectomy in IA1 cervical cancer patients with lymphovascular space invasion who wish to save fertility? A systematic review and guideline recommendation
por: Shim, Seung-Hyuk, et al.
Publicado: (2018)

Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy
por: Chung, Hyemoon, et al.
Publicado: (2021)

Vitamin D Deficiency Rickets Mimicking Pseudohypoparathyroidism
por: Akın, Leyla, et al.
Publicado: (2010)

Visual disturbances as a presenting feature of pseudohypoparathyroidism
por: Maheshwari, Rushikesh, et al.
Publicado: (2013)

SUN-502 From Pseudohypoparathyroidism to Signaling Disorder
por: Imam, Ahmad, et al.
Publicado: (2019)

Dental anomalies and orthodontic characteristics in patients with pseudohypoparathyroidism
por: Hejlesen, Jane, et al.
Publicado: (2019)

SAT-371 Severe Hypocalcemia Secondary to Pseudohypoparathyroidism
por: Ghanta, Neelima, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_in2q218rjm7fo43v5rdlf5lks6