Cargando…

Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report

The gene that codes for the close homolog of L1 (CHL1 gene) is located in the 3p26.3 cytogenetic band in the distal portion of the 3p chromosome. This gene is highly expressed in the central nervous system and plays an important role in brain formation and plasticity. Complete or partial CHL 1 gene-...

Descripción completa

Detalles Bibliográficos
Autores principales:	Onate-Quiroz, Kenny V., Nwosu, Benjamin Udoka, Salemi, Parissa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10126371/ https://www.ncbi.nlm.nih.gov/pubmed/37114233 http://dx.doi.org/10.3389/fneur.2023.1104649

Ejemplares similares

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
por: Ramirez, J. M., et al.
Publicado: (2019)

Genetic testing for maturity-onset diabetes of the young resulting in an upgraded genetic classification of an HNF1A gene variant: a case report
por: Pollack-Schreiber, Naama, et al.
Publicado: (2023)

Tall Stature: A Challenge for Clinicians
por: Corredor, Beatriz, et al.
Publicado: (2019)

Tall stature: a difficult diagnosis?
por: Meazza, Cristina, et al.
Publicado: (2017)

Tall stature in children: differential diagnosis and management
por: Kumar, Sanjay
Publicado: (2013)

Epiphysiodesis for the treatment of tall stature and leg length discrepancy
por: Willegger, Madeleine, et al.
Publicado: (2021)

Turner syndrome presented with tall stature due to overdosage of the SHOX gene
por: Seo, Go Hun, et al.
Publicado: (2015)

XYY syndrome: a 13-year-old boy with tall stature
por: Jo, Won Ha, et al.
Publicado: (2015)

The aetiology of extreme tall stature in a screened Finnish paediatric population
por: Kärkinen, Juho, et al.
Publicado: (2021)

Prevalence of pathogenetic MC4R mutations in Italian children with early Onset obesity, tall stature and familial history of obesity
por: Santoro, Nicola, et al.
Publicado: (2009)

Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype
por: Katsushima, Yuriko, et al.
Publicado: (2008)

Etiology and Clinical Profile of Patients with Tall Stature: A Single-Center Experience
por: Goyal, Alpesh, et al.
Publicado: (2020)

Comparison of Commonly Used Methods to Predict the Final Height in Constitutional Tall Stature
por: Matias, Alma Kamar, et al.
Publicado: (2023)

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
por: Razavi, Zahra, et al.
Publicado: (2017)

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature
por: Lauffer, Peter, et al.
Publicado: (2022)

Lactose Intolerance: Lack of Evidence for Short Stature or Vitamin D Deficiency in Prepubertal Children
por: Setty-Shah, Nithya, et al.
Publicado: (2013)

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature
por: Lauffer, Peter, et al.
Publicado: (2020)

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes
por: Weiss, Birgit, et al.
Publicado: (2021)

One Fourth of Adult Patients With Acromegaly Have Tall Stature With Similar Frequency in Males And Females
por: Bogusławska, Anna, et al.
Publicado: (2021)

Increased expression of cell adhesion molecules in myofasciitis
por: Ma, Xue, et al.
Publicado: (2023)

Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature
por: Abdullah, Sarah, et al.
Publicado: (2016)

Diagnostic Work-up and Follow-up in Children with Tall Stature: A Simplified Algorithm for Clinical Practice
por: Stalman, Susanne E., et al.
Publicado: (2015)

Preliminary results of two novel devices for epiphysiodesis in the reduction of excessive predicted final height in tall stature
por: Laufer, Andrea, et al.
Publicado: (2022)

Letter to the Editor Regarding “Comparison of Commonly Used Methods to Predict the Final Height in Constitutional Tall Stature”
por: Roy, Subhankar, et al.
Publicado: (2023)

Adhesion molecules and cerebral microvascular hemodynamic abnormalities in sickle cell disease
por: Abi Rached, Noor Mary, et al.
Publicado: (2022)

Abstract 69: A novel variant of MTHFR homozygous mutation causing hyperhomocystinemia in a case presenting as tall stature
por: Pande, Arunkumar R, et al.
Publicado: (2022)

Understanding author scientometrics – How tall is tall?
por: Honavar, Santosh G
Publicado: (2021)

Plasma biomarkers for diagnosis of Alzheimer's disease and prediction of cognitive decline in individuals with mild cognitive impairment
por: Kivisäkk, Pia, et al.
Publicado: (2023)

Levels of adhesion molecules and clinical outcomes in patients with ischemic stroke after mechanical thrombectomy
por: Zhang, Xiaohao, et al.
Publicado: (2022)

Locomotor Adaptation Deficits in Older Individuals With Cognitive Impairments: A Pilot Study
por: Pottorf, Tana S., et al.
Publicado: (2022)

The Predicted Key Molecules, Functions, and Pathways That Bridge Mild Cognitive Impairment (MCI) and Alzheimer's Disease (AD)
por: Tao, Ye, et al.
Publicado: (2020)

RF17 | PMON24 The paradox of combined pituitary hormone deficiency and tall stature: a glimpse from exome sequencing
por: Carvalho, Luciani R, et al.
Publicado: (2022)

The Relationship between Subnormal Peak-Stimulated Growth Hormone Levels and Auxological Characteristics in Obese Children
por: Barrett, Jefferson, et al.
Publicado: (2014)

Subacute Cognitive Impairment in Individuals With Mild and Moderate COVID-19: A Case Series
por: Matos, Aline de Moura Brasil, et al.
Publicado: (2021)

MON-103 Chromosome 15q13.3 Microdeletion And MAGEL2 Gene Mutation In A Pediatric Patient With Extreme Obesity And Tall Stature: A Case Report
por: Duhame, Danielle, et al.
Publicado: (2019)

Relationships Among Circulating Levels of Hemostasis Inhibitors, Chemokines, Adhesion Molecules, and MRI Characteristics in Multiple Sclerosis
por: Ziliotto, Nicole, et al.
Publicado: (2020)

Duplication of the Alar Ligaments: A Case Report
por: Rizvi, Asad, et al.
Publicado: (2018)

Tall in the Saddle
por: Bicknell, Joan
Publicado: (1970)

Increased Risk for Vitamin D Deficiency in Obese Children with Both Celiac Disease and Type 1 Diabetes
por: Setty-Shah, Nithya, et al.
Publicado: (2014)

Pituitary Stalk Duplication: A Radiological Surprise in a Child With Short Stature
por: Sravya, Surapaneni Lakshmi, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_t1ao83mgjaqadfdo665da3ghht