Results 61 to 70 of about 60,147,798 (196)

Erosive pustulöse Dermatose der Unterschenkel (EPDL): Eine selten diagnostizierte neutrophile Dermatose älterer Menschen

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 7, Page 880-885, July 2026.
Zusammenfassung Die erosive pustulöse Dermatose der Unterschenkel (EPDL) ist eine selten diagnostizierte, chronische entzündliche Hauterkrankung, die überwiegend bei älteren Menschen auftritt. Prädisponierende Faktoren sind unter anderem Hautatrophie, chronische venöse Insuffizienz und Traumata.
Joachim Dissemond, Jan Kottner, Jan‐Malte Placke, Cornelia Erfurt‐Berge   +3 more
wiley   +1 more source

Social Anxiety in Cornelia de Lange Syndrome [PDF]

Journal of Autism and Developmental Disorders, 2009
In this study we assessed the behavioral presentation of social anxiety in Cornelia de Lange syndrome (CdLS) using a contrast group of Cri du Chat syndrome (CdCS). Behaviors indicative of social anxiety were recorded in twelve children with CdLS (mean age = 11.00; SD = 5.15) and twelve children with CdCS (8.20; SD = 2.86) during social interaction. Lag
Richards, Caroline, Moss, Jo, O'Farrell, Laura, Kaur, Gurmeash, Oliver, Chris   +4 more
openaire   +4 more sources

Successful difficult airway management using GlideScope video laryngoscope in a child with Cornelia de Lange Syndrome [PDF]

Yeungnam University Journal of Medicine, 2018
Management of airway in a child with Cornelia de Lange Syndrome (CdLS) should be given due consideration because most of them have the problems related to difficult airway.
Sang-Jin Park, Eun Kyung Choi, Suyong Park, Kunjin Bae, Deokhee Lee   +4 more
doaj   +1 more source

Interaction Between Rec8 and Mis4 Is Required for Axis‐Loop Chromatin Formation and Homologous Chromosome Recombination During Meiosis

Genes to Cells, Volume 31, Issue 4, July 2026.
We identified a Mis4 cohesin loader mutant that is specifically defective in chromatin axis formation and homologous recombination while retaining normal sister chromatid cohesion. The mis4‐LR mutant, carrying the L1150S and R1159G amino acid substitutions, exhibited reduced interaction between Mis4 and Rec8, suggesting a meiosis‐specific role for the ...
Takeshi Sakuno, Yasuto Murayama, Tokuko Haraguchi, Yasushi Hiraoka   +3 more
wiley   +1 more source

Brachman de lange syndrome

Contemporary Clinical Dentistry, 2010
Brachman de Lange syndrome or Cornelia de Lange syndrome (CdLS) is a genetic disorder which can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child.
Leena Verma, Sidhi Passi, Krishan Gauba
doaj   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, Volume 67, Issue 6, Page 3185-3198, June 2026.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients

BMC Medical Genetics, 2019
Background Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL variants.
Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki, Bartosz Wasag   +3 more
doaj   +1 more source

Case Report: Endogenous Candida Endophthalmitis in Cornelia de Lange Syndrome: Atypical Stellate Neuroretinitis

, 2021
This study aimed to highlight the association of stellate neuroretinitis occurring secondary to endogenous candidemia. We report an unusual presentation of endogenous Candida endophthalmitis as a stellate neuroretinitis in the setting of Cornelia de ...
Audina M. Berrocal, Murray, Timothy G, El Hamichi, Sophia, Berrocal, Audina M, Sophia El Hamichi, Veronica Kon Graversen, Aaron S. Gold, Timothy G. Murray, Gold, Aaron S, Kon Graversen, Veronica   +9 more
core   +1 more source

Cornelia de Lange Syndrome and Psychiatric’s Assistance

Jurnal Psikiatri Surabaya, 2020
Cornelia de Lange's syndrome (CdLS) is a genetic disorder characterized by developmental disorders in several organ systems, including the brain, bones, digestion, immunity, endocrine, and others. This syndrome is mainly caused by mutations in the NIPBL,
Katharina Merry Apriliani, Yunias Setiawati   +1 more
doaj   +1 more source

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

Prenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam, Mengmeng Shi, Zirui Dong, Kwong Wai Choy, Tak Yeung Leung, Ye Cao   +5 more
wiley   +1 more source