Cargando…

An Indian Child with CONDSIAS Due to a Novel Variant in ADPRHL2 Gene

Detalles Bibliográficos
Autores principales:	Bajaj, Shruti, Shah, Poornima, Shah, Amit, Setty, Phani N., Seenappa, Venu, Hingwala, Divyata
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2022
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9996498/ https://www.ncbi.nlm.nih.gov/pubmed/36911439 http://dx.doi.org/10.4103/aian.aian_558_22

Ejemplares similares

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report
por: Aryan, Hajar, et al.
Publicado: (2020)

Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Presenting with Torticollis Attacks: Phenotypic Variability of the Same Mutation in Two Turkish Patients
por: Ozturk, Gulten, et al.
Publicado: (2022)

A Sibling Pair with Autosomal Recessive Charcot–Marie–Tooth Disease Due to Novel Ganglioside-induced Differentiation-associated Protein 1 Mutation
por: Shah, Poornima Amith, et al.
Publicado: (2017)

The pseudoenzyme ADPRHL1 affects cardiac function by regulating the ROCK pathway
por: Tian, Lei, et al.
Publicado: (2023)

Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency
por: Tippabathani, Jayakrishna, et al.
Publicado: (2023)

Anesthesia workstation ventilator malfunction due to accidental misplacement of a nasogastric tube
por: Shah, Prerana Nirav, et al.
Publicado: (2016)

Demyelination presenting as tics in a healthy child
por: Saleem, Rashid, et al.
Publicado: (2013)

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response
por: Beijer, Danique, et al.
Publicado: (2021)

A 104-bp Structural Variation of the ADPRHL1 Gene Is Associated With Growth Traits in Chickens
por: Li, Tong, et al.
Publicado: (2021)

Use of Airtraq(®) optical laryngoscope for the intubation in Pierre Robin sequence in a teenage child
por: Shah, Amit, et al.
Publicado: (2016)

Prevalence of D variants in the Indian donor population
por: Subramaniyan, Rajeswari
Publicado: (2019)

Subcutaneous Cervical Cysticercosis in a Child
por: Shah, Ira
Publicado: (2012)

Applications of 3D CISS sequence for problem solving in neuroimaging
por: Hingwala, Divyata, et al.
Publicado: (2011)

Use of Indian Scale for Assessment of Autism in Child Guidance Clinic: An Experience
por: Patra, Suravi, et al.
Publicado: (2011)

Bacterial Infections in a Child with TD-β-thalassemia and Common Variable Immunodeficiency Due to a Novel NFKB1 Variant
por: Li, Wanting, et al.
Publicado: (2023)

Transcranial motor evoked potential monitoring outcome in the high-risk brain and spine surgeries: Correlation of clinical and neurophysiological data – An Indian perspective
por: Shah, Poornima Amit
Publicado: (2013)

Pre-operative continuation of ivabradine therapy for dilated cardiomyopathy – Skip it or not?
por: Dongari, Sushmitha, et al.
Publicado: (2023)

Multimodality imaging of carotid atherosclerotic plaque: Going beyond stenosis
por: Hingwala, Divyata, et al.
Publicado: (2013)

Childhood Flexural Comedones with Seborrheic Dermatitis and Verrucous Epidermal Nevus in an Indian Child
por: Goyal, Pallavi, et al.
Publicado: (2021)

Blunt orbital injury causing traumatic intracranial aneurysm in a child
por: Bajaj, Jitin, et al.
Publicado: (2016)

A study on optimization of plasma pool size for viral infectious markers in Indian blood donors using nucleic acid amplification testing
por: Mathur, Ankit, et al.
Publicado: (2012)

Noninflammatory thyroid eye disease in Indian subcontinent: Is it a departure from Rundle’s curve?
por: Agarwal, Ayushi, et al.
Publicado: (2022)

Imaging signs in idiopathic intracranial hypertension: Are these signs seen in secondary intracranial hypertension too?
por: Hingwala, Divyata R., et al.
Publicado: (2013)

Extreme self-mutilation due to ‘Dhat’ syndrome
por: Maheshwari, Pankaj N., et al.
Publicado: (2022)

DRESS Syndrome with Peripheral Neuropathy Due to Reactivation of Cytomegalovirus in a Child
por: Vasanthan, Tanigasalam, et al.
Publicado: (2015)

Atherosclerotic Carotid Plaques: Multimodality Imaging with Contrast-enhanced Ultrasound, Computed Tomography, and Magnetic Resonance Imaging
por: Hingwala, Divyata R., et al.
Publicado: (2017)

Management of Leigh syndrome due to NDUFAF6 variants
por: Finsterer, Josef, et al.
Publicado: (2019)

Extravasation injury due to dopamine infusion leading to dermal necrosis and gangrene
por: Bhosale, Guruprasad P, et al.
Publicado: (2012)

Polymicrobial Sepsis in an Immunocompetent Host due to Self Injection of Urine
por: Subramanian, Senthilkumaran, et al.
Publicado: (2011)

Delayed pharyngoesophageal perforation following anterior cervical spine surgery: An incidental finding
por: Anandaswamy, Tejesh C, et al.
Publicado: (2012)

Extensive vulval and perianal ulceration due to genital herpes virus infection
por: Rathod, Santoshdev Pitamber, et al.
Publicado: (2019)

Defective heart chamber growth and myofibrillogenesis after knockout of adprhl1 gene function by targeted disruption of the ancestral catalytic active site
por: Smith, Stuart J., et al.
Publicado: (2020)

Rare case of duodenal obstruction due to abdominal aortic aneurysm, “aortoduodenal syndrome”: An Indian case report
por: Pachuau, Esther L, et al.
Publicado: (2020)

X linked Infantile Epileptic Encephalopathy due to SMC1A Truncating Mutation
por: Naik, Neeta Ajit, et al.
Publicado: (2021)

Intraluminal obstruction of epidural catheter due to manufacturing defect
por: Kulkarni, Prasad K, et al.
Publicado: (2012)

Autosomal Recessive Mitochondrial Myopathy due to MICU-1 Variants
por: Finsterer, Josef
Publicado: (2023)

Neuroenteric cysts of the brain-comprehensive magnetic resonance imaging
por: Hingwala, Divyata R, et al.
Publicado: (2013)

Extensive traumatic thalamic contusions in a child
por: Agrawal, Amit, et al.
Publicado: (2017)

Paroxysmal Exercise-Induced Dyskinesia in Siblings due to ECHS1 Gene Mutation – First Indian Case Report
por: Senthilkumar, Vajramanickam, et al.
Publicado: (2020)

Critically ill patients with 2009 H1N1 infection in an Indian intensive care unit
por: Kute, Vivek B., et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_eldr2mckac39v8b3hqi6v3hcbq