Cargando…

Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region

Context. Leri–Weill dyschondrosteosis is a clinically variable skeletal dysplasia, caused by SHOX deletion or mutations, or a deletion of enhancer sequences in the 3’-flanking region. Recently, a 47.5 kb recurrent PAR1 deletion downstream of SHOX was reported, but its frequency and clinical importan...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kant, Sarina G., Broekman, Sander J., de Wit, Caroline C., Bos, Marloes, Scheltinga, Sitha A., Bakker, Egbert, Oostdijk, Wilma, van der Kamp, Hetty J., van Zwet, Erik W., van der Hout, Annemieke H., Wit, Jan M., Losekoot, Monique
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	PeerJ Inc. 2013
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629036/ https://www.ncbi.nlm.nih.gov/pubmed/23638371 http://dx.doi.org/10.7717/peerj.35

Ejemplares similares

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome
por: de Graaf, Michael, et al.
Publicado: (2017)

IGSF1 deficiency syndrome: A newly uncovered endocrinopathy
por: Joustra, Sjoerd D., et al.
Publicado: (2013)

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome
por: Hulle, Severine Van, et al.
Publicado: (2016)

PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations
por: Oostdijk, Wilma, et al.
Publicado: (2015)

A bone overgrowth disorder due to a gain-of-function mutation in the kinase homology domain of guanylyl cyclase B, the receptor for CNP
por: Kuhn, Michaela, et al.
Publicado: (2013)

Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
por: Babu, Deepak, et al.
Publicado: (2020)

Pituitary Adenoma Apoplexy in an Adolescent: A Case Report and Review of the Literature
por: Zijlker, Hero, et al.
Publicado: (2017)

Expressing human SHOX in Shox2(SHOX KI)/(KI) mice leads to congenital osteoarthritis-like disease of the temporomandibular joint in postnatal mice
por: Liang, Wenna, et al.
Publicado: (2016)

A Proposal for the Interpretation of Serum IGF-I Concentration as Part of Laboratory Screening in Children with Growth Failure
por: Wit, Jan M., et al.
Publicado: (2020)

Distinct Visual Thresholds for Egocentric and Allocentric Information Pick UP?
por: De Wit, Matthieu, et al.
Publicado: (2011)

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
por: Verdin, Hannah, et al.
Publicado: (2015)

Skeletal Deformity Associated with SHOX Deficiency
por: Seki, Atsuhito, et al.
Publicado: (2014)

Left, right, left, right, eyes to the front! Müller-Lyer bias in grasping is not a function of hand used, hand preferred or visual hemifield, but foveation does matter
por: van der Kamp, John, et al.
Publicado: (2012)

Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardia
por: Hoffmann, Sandra, et al.
Publicado: (2013)

Is Combined Ultrasound with Radiography Sufficient for the Diagnosis of Obstructive Ureteric Stone in Patients with Acute Flank Pain?
por: Thungkatikajonkit, Pornprom, et al.
Publicado: (2019)

Referral patterns of children with poor growth in primary health care
por: Grote, Floor K, et al.
Publicado: (2007)

The Efficacy, Safety, and Side Effects of Intrapericardial Triamcinolone Treatment in Children with Post-surgical Pericardial Effusion: A Case Series
por: van der Werff, Manon H., et al.
Publicado: (2021)

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy
por: Helderman-van den Enden, Apollonia T J M, et al.
Publicado: (2013)

Rare and de novo duplications containing SHOX in clubfoot
por: Sadler, Brooke, et al.
Publicado: (2020)

shox2 is required for vestibular statoacoustic neuron development
por: Laureano, Alejandra S., et al.
Publicado: (2023)

Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency
por: Li, Lushan, et al.
Publicado: (2023)

The Effect of Multidisciplinary Lifestyle Intervention on the Pre- and Postprandial Plasma Gut Peptide Concentrations in Children with Obesity
por: Vos, Rimke C., et al.
Publicado: (2011)

Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation
por: Ocaranza, Paula, et al.
Publicado: (2019)

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth
por: Ghanny, Steven, et al.
Publicado: (2021)

Rapid early increase in BMI is associated with impaired longitudinal growth in children with cystic fibrosis
por: Hak, Sarah F., et al.
Publicado: (2019)

The Short-Stature Homeobox-Containing Gene (shox/SHOX) Is Required for the Regulation of Cell Proliferation and Bone Differentiation in Zebrafish Embryo and Human Mesenchymal Stem Cells
por: Yokokura, Tomoaki, et al.
Publicado: (2017)

Evaluation of SHOX copy number variations in patients with Müllerian aplasia
por: Sandbacka, Maria, et al.
Publicado: (2011)

Spinal Shox2 interneuron interconnectivity related to function and development
por: Ha, Ngoc T, et al.
Publicado: (2018)

Mutations in TBL1X Are Associated With Central Hypothyroidism
por: Heinen, Charlotte A., et al.
Publicado: (2016)

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region
por: Gatta, Valentina, et al.
Publicado: (2014)

Overexpression of Shox2 Leads to Congenital Dysplasia of the Temporomandibular Joint in Mice
por: Li, Xihai, et al.
Publicado: (2014)

Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency
por: Miyoshi, Yoko, et al.
Publicado: (2005)

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

Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature
por: Delil, Kenan, et al.
Publicado: (2016)

The diagnostic work up of growth failure in secondary health care; An evaluation of consensus guidelines
por: Grote, Floor K, et al.
Publicado: (2008)

Cost-effectiveness of selective digestive decontamination (SDD) versus selective oropharyngeal decontamination (SOD) in intensive care units with low levels of antimicrobial resistance: an individual patient data meta-analysis
por: van Hout, Denise, et al.
Publicado: (2019)

Left Flank Pain
por: Nappe, Thomas M., et al.
Publicado: (2015)

Screening rules for growth to detect celiac disease: A case-control simulation study
por: van Dommelen, Paula, et al.
Publicado: (2008)

SEPT9 and SHOX2 DNA methylation status and its utility in the diagnosis of colonic adenomas and colorectal adenocarcinomas
por: Semaan, Alexander, et al.
Publicado: (2016)

Correlation of SHOX2 Gene Amplification and DNA Methylation in Lung Cancer Tumors
por: Schneider, Katja U, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_dd8vquq82t6vfjb2m4d339f24o