Cargando…

46,X,del(X)(q13) Turner's Syndrome Female with Systemic Lupus Erythematosus in a Pedigree Multiplex for SLE

Systemic lupus erythematosus (SLE) disproportionately affects females. Recent work demonstrates that men with Klinefelter's syndrome (47,XXY males) have a similar risk of developing SLE as do genotypic females. We present an unusual case of an African American family with two SLE affected indiv...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cooney, Carisa M., Bruner, Gail R., Aberle, Teresa, Namjou-Khales, Bahram, Myers, Linda K., Feo, Lourdes, Li, Shibo, D'Souza, Anil, Ramirez, Alia, Harley, John B., Scofield, R. Hal
Formato:	Texto
Lenguaje:	English
Publicado:	2009
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722751/ https://www.ncbi.nlm.nih.gov/pubmed/19458623 http://dx.doi.org/10.1038/gene.2009.37

Ejemplares similares

Mosaic Turner Syndrome With 45,X/46,XY Mosaicism and Apparent Absent Uterus
por: Alhajjaj, Alya, et al.
Publicado: (2021)

Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype
por: Yüce, Özge, et al.
Publicado: (2015)

Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X
por: González-Rodríguez, María Teresa Alejandra, et al.
Publicado: (2023)

Three patients with 46,X,inv(Y)(p11.2q11.2)pat/45,X and their pedigree analysis
por: Chen, Yunchun, et al.
Publicado: (2020)

Characterization of cxorf21 Provides Molecular Insight Into Female-Bias Immune Response in SLE Pathogenesis
por: Harris, Valerie M., et al.
Publicado: (2019)

Diagnosis of a Chinese man with 45,X/46,X,i(Y)(q10)/47,X,i(Y) (q10) ×2 mosaic Turner syndrome
por: Sha, Yan-Wei, et al.
Publicado: (2018)

Pheochromocytoma as a rare cause of hypertension in a 46 X, i(X)(q10) turner syndrome: a case report and literature review
por: Shin, Ji Yeon, et al.
Publicado: (2018)

SAT-217 A Spontaneous and Uneventful Pregnancy in a Turner Syndrome Patient with 45,X[22]/46,X,+Mar[2]/46,Xx[1] Mosaicism: Case Report and Literature Review
por: Scalco, Renata, et al.
Publicado: (2019)

Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
por: Mačkić-Đurović, Mirela, et al.
Publicado: (2018)

Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
por: Cappella, Michela, et al.
Publicado: (2015)

Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case
por: Lamanna, Bruno, et al.
Publicado: (2022)

Mosaic Turner Syndrome Presenting with a 46,XY Karyotype
por: Rasouli, Melody, et al.
Publicado: (2019)

Neocentric X-chromosome in a girl with Turner-like syndrome
por: Hemmat, Morteza, et al.
Publicado: (2012)

Blood group antigens SLeX, SLeA, and LeY as prognostic markers in endometrial cancer
por: Kolben, Thomas, et al.
Publicado: (2022)

P46 A rare case of costovertebral arthritis in SLE
por: Latheef, Afzal, et al.
Publicado: (2022)

Phenotypic Characterization of SLe(x)+ and CLA+ CD4+ T Cells
por: Kuri-Cervantes, Leticia, et al.
Publicado: (2020)

Abstract 46: Karyotype and phenotype correlation in Turner syndrome in South India
por: Raja, B Rameez, et al.
Publicado: (2022)

Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene
por: Jung, Jae Yeop, et al.
Publicado: (2015)

Origin of the X-chromosome influences the development and treatment outcomes of Turner syndrome
por: Zhang, Ying, et al.
Publicado: (2021)

Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?
por: Soares, Jéssica Silva, et al.
Publicado: (2021)

Transcriptional changes in response to X chromosome dosage in the mouse: implications for X inactivation and the molecular basis of Turner Syndrome
por: Lopes, Alexandra M, et al.
Publicado: (2010)

Multiple Autoantibodies Display Association with Lymphopenia, Proteinuria, and Cellular Casts in a Large, Ethnically Diverse SLE Patient Cohort
por: Lu, Rufei, et al.
Publicado: (2012)

Detection of Catalase as a major protein target of the lipid peroxidation product 4-HNE and the lack of its genetic association as a risk factor in SLE
por: D'souza, Anil, et al.
Publicado: (2008)

Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene
Publicado: (2016)

VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome)
por: Stubbins, Ryan J., et al.
Publicado: (2021)

Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)
por: Watanabe, Takafumi, et al.
Publicado: (2018)

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations
por: Zhang, Min, et al.
Publicado: (2020)

A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar
por: Soheilipour, Fahimeh, et al.
Publicado: (2014)

Prenatal Diagnosis of Placental Mesenchymal Dysplasia with 46, X, Isochromosome Xq/45, X Mosaicism
por: Hsu, Chin-Chieh, et al.
Publicado: (2022)

X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female
por: Vidmar, Alaina P., et al.
Publicado: (2017)

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker
por: Mazzaschi, Roberto L. P., et al.
Publicado: (2014)

Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome
por: Kasprzyk, Jakub, et al.
Publicado: (2021)

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome
por: Luo, Hunjin, et al.
Publicado: (2022)

Bioinformatic analysis identifies the immunological profile of turner syndrome with different X chromosome origins
por: Qi, Xiao, et al.
Publicado: (2023)

Strong viral associations with SLE among Filipinos
por: Vista, Evan S, et al.
Publicado: (2017)

A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy
por: Hishimura-Yonemaru, Nozomi, et al.
Publicado: (2017)

The phenotype of a pig with monosomy X resembling Turner syndrome symptoms: a case report
por: UMEYAMA, Kazuhiro, et al.
Publicado: (2019)

Why Turner patients with 45, X monosomy should not be excluded from fertility preservation services
por: Schleedoorn, MJ, et al.
Publicado: (2022)

SLE non-coding genetic risk variant determines the epigenetic dysfunction of an immune cell specific enhancer that controls disease-critical microRNA expression
por: Hou, Guojun, et al.
Publicado: (2021)

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism
por: De Groote, Katya, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_kakp8n7d4eveb91gbk4h355dbf