Why is "Brachmann–de Lange syndrome" trending?

Search Interest Perspective

• Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models - Nature
• Insights into clinical features and genetic variants of Cornelia de Lange syndrome in China - News-Medical
• Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype - Nature
• Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome - Haematologica
• Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report - Cureus
• Cornelia de Lange Syndrome: Megan’s Story - Children's Hospital of Philadelphia
• Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms - Wiley Online Library
• Maintaining Hope Amid My Baby's Cornelia de Lange Syndrome Diagnosis - The Mighty. Making health about people.
• Cornelia de Lange Syndrome Awareness /Steamed Dungeness Crab - newportnewstimes.com
• A Nine-Year-Old Girl With Cornelia de Lange Syndrome: A Case Report and Review of the Literature - Cureus
• Cornelia de Lange syndrome: specific features for prenatal diagnosis - Thellier - 2017 - obgyn.onlinelibrary.wiley.com
• Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin - Nature
• A Rare Case of Coexisting 22q11.2 Deletion Syndrome and Cornelia De Lange Syndrome: A Case Report and Review of the Literature - Cureus
• Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome - Nature
• Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood - Nature
• Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome - Nature
• Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement - Nature
• Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome - Nature
• Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome - Nature
• Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect - Nature
• Dental Anesthetic for a Patient with Cornelia De Lange Syndrome During Dental Treatment: A Case Report - Oral Health Group
• Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome - Nature
• Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL - Nature
• Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature | European Journal of Human Genetics - Nature
• Pope expresses closeness to people with Cornelia de Lange Syndrome - Vatican News
• Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report - Frontiers
• HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle - Nature
• Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome - Wiley Online Library
• Parenchymal Organ Changes in Two Female Patients With Cornelia de Lange Syndrome: Autopsy Case Report - Cureus
• Barefoot soldier’s long hike to cure daughter’s disease includes stop in Worcester - Worcester Telegram
• British father finishes 1,000 barefoot walk from Maine to North Carolina to help his daughter - newscentermaine.com
• Council Designates May 10 As Cornelia de Lange Syndrome Awareness Day - Patch
• Persistent DNA damage in the placenta affects pregnancy outcomes - EurekAlert!
• Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation - Wiley Online Library
• Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction - Nature
• Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B - Nature
• Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4 - Nature
• ‘Her lungs filled with blood, and her heart stopped. We waited 7 years for the results.’: Mom of daughter with Cornelia de Lange Syndrome advocates ‘there CAN be life after diagnosis’ - Love What Matters
• Cornelia De Lange Syndrome Awareness Day – May. 8, 2027 - National Today
• Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome - obgyn.onlinelibrary.wiley.com
• Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients - Nature
• Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome - Wiley Online Library
• Living with Cornelia de Lange Syndrome: 10-year-old Hasti has a rare condition that affects 1 in 10,000 births - Gulf News
• First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report - Frontiers
• International Cornelia de Lange Syndrome (CdLS) Awareness Day 2024: Date, history, significance | Health - Hindustan Times
• Cornelia de Lange syndrome: A case report - SciELO España
• A soldier completed a 700 mile trek barefoot to raise money for CdLS - but what is the genetic condition? - The Scotsman
• International Cornelia de Lange Syndrome (CdLS) Awareness Day 2024: Date, history, significance - The Hans India
• Scots baby believed to be only person in the world living with two rare conditions - Daily Record