Cargando…

Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots

Detalles Bibliográficos
Autores principales:	Rim, John Hoon, Chung, Hee Jung, Shin, Saeam, Park, Seo-Jin, Choi, Jong Rak
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2015
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4446592/ https://www.ncbi.nlm.nih.gov/pubmed/26131425 http://dx.doi.org/10.3343/alm.2015.35.4.474

Ejemplares similares

Prevalence of Café-au-Lait Spots in children with solid tumors
por: dos Santos, Anna Claudia Evangelista, et al.
Publicado: (2016)

Large café-au-lait spots on a 5-year-old boy
por: McLarney, Brett D., et al.
Publicado: (2022)

Craniofacial findings in syndromes associated with cafe-au-lait spots: a literature review
por: Carvalho, Adriana Amaral, et al.
Publicado: (2023)

Eczematous Dermatitis Occurring on a Café-au-Lait Spot Long after Laser Radiation
por: Mihara, Motoyuki
Publicado: (2013)

Plexiform Neurofibroma Overlying Giant Café-au-lait Macule
por: Choudhary, Sanjiv V., et al.
Publicado: (2017)

An approach to café au lait macules in primary care setting
por: Almuhaidib, Seereen R., et al.
Publicado: (2021)

Successful surgical management of bilateral epiretinal membrane in a child with only café-au-lait spots
por: Philip, Swetha Sara, et al.
Publicado: (2017)

Bardet–Biedl Syndrome with Café-au-Lait Macule: Association or Coincidence?
por: Tomar, Suyash S., et al.
Publicado: (2020)

Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report
por: Khushaim, Ayman, et al.
Publicado: (2021)

McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism – case report
por: RAUS, IULIAN, et al.
Publicado: (2016)

Molecular screening strategies for NF1-like syndromes with café-au-lait macules
por: Zhang, Jia, et al.
Publicado: (2016)

Laser treatment for Cafe-au-lait Macules: a systematic review and meta-analysis
por: Guo, Zi-Zhen, et al.
Publicado: (2023)

A case of isodicentric chromosome 15 presented with epilepsy and developmental delay
por: Kim, Jon Soo, et al.
Publicado: (2012)

Treatment of Café‐Au‐Lait Spots Using Q‐Switched Alexandrite Laser: Analysis of Clinical Characteristics of 471 Children in Mainland China
por: Zhang, Bin, et al.
Publicado: (2019)

Type VIII - Ehlers Danlos Syndrome with café-au-lait macules: A Rare Variant
por: Bhat, Ramesh M, et al.
Publicado: (2014)

Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome
por: Ponti, Giovanni, et al.
Publicado: (2012)

Genome‐wide association study of café‐au‐lait macule number in neurofibromatosis type 1
por: Sung, Heejong, et al.
Publicado: (2020)

Case report: Gene mutation analysis and skin imaging of isolated café-au-lait macules
por: Zhong, Zhenyu, et al.
Publicado: (2023)

Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature
por: Akarsu, Sevgi, et al.
Publicado: (2019)

Development of Café-Au-Lait-Macule Lesions in a Patient After Dupilumab Therapy for Atopic Dermatitis
por: Hasanain, Afnan, et al.
Publicado: (2023)

Retinal café-au-lait macules: A rare retinal finding in a patient with neurofibromatosis type 1
por: Venkatesh, Ramesh, et al.
Publicado: (2019)

Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children
por: NASI, Lamprini, et al.
Publicado: (2023)

Treatment with the Pinhole Technique Using Erbium-Doped Yttrium Aluminium Garnet Laser for a Café au Lait Macule and Carbon Dioxide Laser for Facial Telangiectasia
por: Chung, Bo Young, et al.
Publicado: (2014)

Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation
por: Nagaputra, Jerry C., et al.
Publicado: (2018)

Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1
por: Freret, Morgan E., et al.
Publicado: (2018)

Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits
por: Plataras, Christos, et al.
Publicado: (2018)

A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report
por: Park, Doug Ho, et al.
Publicado: (2013)

Genetic Modifiers of Neurofibromatosis Type 1-Associated Café-au-Lait Macule Count Identified Using Multi-platform Analysis
por: Pemov, Alexander, et al.
Publicado: (2014)

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes
por: Yang, Yang, et al.
Publicado: (2019)

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling
por: Jia, Wei-Xue, et al.
Publicado: (2015)

KIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence
por: Hegde, Shibhani S., et al.
Publicado: (2022)

Piebaldism with café‐au‐lait macules resulting from a novel mutation of KIT gene in a three‐generation Chinese family
por: Li, Xiaorong, et al.
Publicado: (2023)

Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome
por: Silvestre, Catarina, et al.
Publicado: (2019)

RARE-16. A PATIENT WITH MOSAIC POST-ZYGOTIC KRAS-G12D PATHOGENIC VARIANT PRESENTING WITH A SYMPTOMATIC SPINAL NEUROFIBROMA AND LARGE SEGMENTAL TRUNCAL CAFÉ AU LAIT SPOT
por: Demaliaj, Dardan, et al.
Publicado: (2021)

The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21
por: Obara, Koji, et al.
Publicado: (2020)

Isodicentric Philadelphia chromosome: an uncommon chromosomal abnormality in the chronic phase of chronic myeloid leukemia (CML)
por: Loo, Eric, et al.
Publicado: (2015)

The "Goutte De Lait"
Publicado: (1904)

The "Goutte De Lait"
Publicado: (1904)

Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18
por: Zhang, Yanliang, et al.
Publicado: (2010)

Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9
por: Beaudry, Sarah M., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_nk47mqu7137hapocen4surtt69