Cargando…

Hyperparathyroidism-Jaw Tumor Syndrome Associated With Large-Scale 1q31 Deletion

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal dominant cause of familial hyperparathyroidism associated with benign, ossifying fibromas of the maxillofacial bones and increased risk of parathyroid carcinoma. The putative tumor suppressor gene CDC73 has been implicated in the sy...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rubinstein, Jill C., Majumdar, Sachin K., Laskin, William, Lazaga, Francisco, Prasad, Manju L., Carling, Tobias, Khan, Sajid A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2017
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686645/ https://www.ncbi.nlm.nih.gov/pubmed/29264543 http://dx.doi.org/10.1210/js.2016-1089

Ejemplares similares

Hyperparathyroidism-Jaw Tumor Syndrome
por: Weaver, Travis D., et al.
Publicado: (2021)

Recurrent Primary Hyperparathyroidism in Hyperparathyroid Jaw Tumor Syndrome: A Case Report
por: Kang, James R, et al.
Publicado: (2023)

Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome
por: Mamedova, Elizaveta, et al.
Publicado: (2017)

Hyperparathyroidism jaw tumour syndrome: a pictoral review
por: du Preez, Hannah, et al.
Publicado: (2016)

Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome
por: Walls, G V, et al.
Publicado: (2017)

Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia
por: Akahoshi, Keiko, et al.
Publicado: (2018)

Hyperparathyroidism Jaw-Tumor Syndrome: A Case Report From a Radiological View
por: Khan, Muhammad Mehraiz, et al.
Publicado: (2022)

Hyperparathyroidism-jaw Tumor Syndrome Confirmed by Preoperative Genetic Testing
por: Koikawa, Kenji, et al.
Publicado: (2017)

Jaw tumor in recurrent primary hyperparathyroidism: A case report
por: Amini Nezhad, Farzaneh, et al.
Publicado: (2018)

Ossifying fibroma of the jaw bones in hyperparathyroidism-jaw tumor syndrome: Analysis of 24 cases retrieved from literatures
por: Ibrahem, Hazim Mahmoud
Publicado: (2020)

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA
por: Bonaglia, Maria Clara, et al.
Publicado: (2015)

Primary hyperparathyroidism-jaw tumor syndrome: a confusing and forgotten diagnosis
por: PICIU, DOINA, et al.
Publicado: (2016)

Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome
por: Siller, Alejandro F., et al.
Publicado: (2019)

Chromosome 13q deletion syndrome involving 13q31-qter: A case report
por: Wang, Yue-Ping, et al.
Publicado: (2017)

Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
por: Guarnieri, Vito, et al.
Publicado: (2017)

Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
por: Guarnieri, Vito, et al.
Publicado: (2017)

The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature
por: Barnett, Maxim, et al.
Publicado: (2021)

Multiple Cemento-Ossifying Fibroma: A Sign of Hyperparathyroidism-Jaw Tumour Syndrome
por: Apandi, Nurul Inaas Mahamad, et al.
Publicado: (2023)

FRI686 Phenotypic Profiling And Molecular Mechanisms In Hyperparathyroidism-jaw Tumor Syndrome
por: Tora, Rana, et al.
Publicado: (2023)

Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)
por: de León Ojeda, Norma Elena, et al.
Publicado: (2012)

Recurrence of Hyperparathyroid Hypercalcemia in a Patient With the HRPT-2 Mutation and a Previous Parathyroid Carcinoma in Hyperparathyroidism-Jaw Tumor Syndrome
por: Mele, Marco, et al.
Publicado: (2016)

A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect
por: Iwata‐Otsubo, Aiko, et al.
Publicado: (2022)

Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder
por: Lin, Jaime, et al.
Publicado: (2020)

A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH
por: Majumdar, Sachin K., et al.
Publicado: (2020)

Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension
por: Duga, Balazs, et al.
Publicado: (2014)

Coexistence of hyperparathyroidism and peripheral giant cell granuloma of the jaw: A rare case report
por: Pattnaik, Naina, et al.
Publicado: (2020)

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region
por: Ferreira, Susana Isabel, et al.
Publicado: (2012)

Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion)
por: Woodfin, Taylor, et al.
Publicado: (2019)

Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature
por: Torresan, Francesca, et al.
Publicado: (2019)

Peripheral Giant Cell Granuloma of the Jaws as First Sign of Primary Hyperparathyroidism: A Case Series
por: Limongelli, Luisa, et al.
Publicado: (2020)

Rare Case of a Peripheral Giant Cell Granuloma of the Jaw as First Manifestation of Primary Hyperparathyroidism
por: Buchholzer, Samanta, et al.
Publicado: (2022)

Brown tumor of the jaw as a rare manifestation of hyperparathyroidism: Two case reports and literature review
por: Hakkou, F., et al.
Publicado: (2023)

Paget’s disease of the jaws: Histopathological features of a series of 31 cases
por: Amaya, Nathalie, et al.
Publicado: (2021)

Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome
por: Luo, Huili, et al.
Publicado: (2022)

PB1912: MYELODYSPLASTIC SYNDROME WITH ISOLATED 5Q DELETION AND ASSOCIATED 5Q DELETION TO 13Q DELETION
por: Bouayed Abdelmoula, N., et al.
Publicado: (2022)

1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation
por: Hu, Ping, et al.
Publicado: (2013)

A Pilot Study on Collective Effects of 22q13.31 Deletions on Gray Matter Concentration in Schizophrenia
por: Liu, Jingyu, et al.
Publicado: (2012)

Osteitis fibrosa cystica of mandible in hyperparathyroidism-jaw tumor syndrome: A rare presentation and review of literature
por: Satpathy, Anupama Singh, et al.
Publicado: (2017)

LBSAT144 Single-center Experience With Hyperparathyroidism-jaw Tumor Syndrome - Where Do We Stand?
por: Tora, Rana S, et al.
Publicado: (2022)

Brown tumor of hyperparathyroidism with multiple lesions
por: Majumdar, Sumit, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_4bvjih07tjt9q57gisuuce757d