Cargando…

A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome

Detalles Bibliográficos
Autores principales:	Gong, Ruo-Lan, Wu, Jing, Chen, Tong-Xin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2017
Materias:	Clinical Challenge
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5717871/ https://www.ncbi.nlm.nih.gov/pubmed/29176149 http://dx.doi.org/10.4103/0366-6999.219141

Ejemplares similares

Images: Hajdu–Cheney syndrome
por: Satishchandra, H, et al.
Publicado: (2008)

Hajdu-Cheney syndrome - a rare cause of micrognathia
por: Amalnath, S. Deepak, et al.
Publicado: (2016)

Hajdu-Cheney syndrome: a review
por: Canalis, Ernesto, et al.
Publicado: (2014)

Hajdu–Cheney Syndrome: A Systematic Review of the Literature
por: Cortés-Martín, Jonathan, et al.
Publicado: (2020)

Hajdu-Cheney Syndrome: Report of a Case in Spain
por: Cortés-Martín, Jonathan, et al.
Publicado: (2022)

Nursing Care Plan for Patients with Hajdu–Cheney Syndrome
por: Cortés-Martín, Jonathan, et al.
Publicado: (2022)

Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report
por: Abdelkarim, Mariam, et al.
Publicado: (2023)

Osseointegration of Dental Implants in a Patient with Hajdu-cheney Syndrome
por: Dokou, Panagiota, et al.
Publicado: (2016)

Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome
por: Falls, Cody J, et al.
Publicado: (2021)

Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome
por: Swan, L., et al.
Publicado: (2018)

Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report
por: Cortés-Martín, Jonathan, et al.
Publicado: (2022)

An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
por: Lee, Gil-Ho, et al.
Publicado: (2013)

Craniospinal Surgery in Hajdu-Cheney Syndrome: A Review of Case Reports
por: Falls, Cody J, et al.
Publicado: (2021)

Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research
por: Aida, Natsuko, et al.
Publicado: (2022)

Hajdu Cheney Syndrome due to NOTCH2 defect – First case report from Pakistan and review of literature
por: Ahmed, Sibtain, et al.
Publicado: (2021)

Effect of Zoledronic Acid on Acro-Osteolysis and Osteoporosis in a Patient with Hajdu-Cheney Syndrome
por: Hwang, Sena, et al.
Publicado: (2011)

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review
por: Pittaway, James F. H., et al.
Publicado: (2018)

Foot Deformities in Hajdu-Cheney Syndrome: A Rare Case Report and Review of the Literature
por: Shah, Ashish B., et al.
Publicado: (2017)

Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review
por: Zeng, Chunhua, et al.
Publicado: (2020)

Skeletal characterization in a patient with Hajdu-Cheney syndrome undergoing total knee arthroplasty
por: von Vopelius, E., et al.
Publicado: (2021)

Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review
por: Pittaway, James F. H., et al.
Publicado: (2019)

Surgical management of high-grade lumbar spondylolisthesis associated with Hajdu-Cheney syndrome: illustrative case
por: Ndongo Sonfack, Davaine J., et al.
Publicado: (2022)

Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments
por: Ahmad, Afaf, et al.
Publicado: (2021)

ODP132 Efficacy of Romosozumab for Osteoporosis in a Patient with Hajdu-Cheney Syndrome: A Case Report
por: Kim, Kyoung Jin, et al.
Publicado: (2022)

Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab—A Rare Case Report
por: Kaczoruk-Wieremczuk, Magdalena, et al.
Publicado: (2021)

Fracture healing in a mouse model of Hajdu–Cheney-Syndrome with high turnover osteopenia results in decreased biomechanical stability
por: Ballhause, Tobias Malte, et al.
Publicado: (2023)

A Novel Mutation of PRKAR1A Caused Carney Complex in a Chinese Patient
por: Cai, Xiao-Ling, et al.
Publicado: (2017)

A case of safe airway management by fiber-optic nasotracheal intubation in general anesthesia in a pediatric patient with Hajdu-Cheney syndrome: a case report
por: Kokita, Atsushi, et al.
Publicado: (2023)

Preoperative Evaluation for Complex Female Genital Tract Malformation Using Three-dimensional Printing Technology
por: Wang, Shu, et al.
Publicado: (2017)

Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
por: Acero, Mary García, et al.
Publicado: (2019)

Phenotypic Spectrum of Transthyretin Cardiac Amyloidosis in a Family: Impact of Mutation Zygosity and Sex
por: Tushak, Zackary J., et al.
Publicado: (2021)

Airway Management in a Child with Goldenhar Syndrome
por: Sun, Yan-Hua, et al.
Publicado: (2017)

Wernicke Encephalopathy in a Patient with Pulmonary and Abdominal Tuberculosis
por: Gan, Yun-Cui, et al.
Publicado: (2017)

Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Case
por: Zhao, Xin-Rong, et al.
Publicado: (2017)

Induction of Anesthesia with Dexmedetomidine and Sevoflurane for a Pediatric Difficult Airway
por: Wei, Ling-Xin, et al.
Publicado: (2017)

Is Warfarin Indicated in Behcet's Syndrome Associated with Thrombosis? Reflections on Treatment and Death of a Patient
por: Chen, Yong, et al.
Publicado: (2018)

A Novel Case of Pulmonary Nocardiosis with Secondary Hemophagocytic Lymphohistiocytosis
por: Han, Teng, et al.
Publicado: (2017)

An Infant with Abernethy Malformation Associated with Heterotaxy and Pulmonary Hypertension
por: Zhang, Xiao-Lin, et al.
Publicado: (2017)

An Improved Urethral Catheterization in Female Pigs: A Pilot Study
por: Li, Da-Peng, et al.
Publicado: (2017)

Treatment for 15 Cases of Cervical Tuberculosis
por: Yao, Min, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_5fuj843fihmimfjmkbf1r157v3