Disease: Floating-harbor syndrome
- 16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems
- A Case of Floating-Harbor Syndrome with "Growth and Language Development Delay" as Its Clinical Manifestation
- A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene
- A new syndrome: multiple congenital abnormalities and mental retardation in two brothers
- A novel finding of oligodontia and ankyloglossia in a 14-year-old with Floating-Harbor syndrome
- A variant example of familial Floating-Harbor syndrome?
- Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome
- Alleviation effect of conjugated linoleic acid on estradiol benzoate induced fatty liver hemorrhage syndrome in Hy-line male chickens
- Association of feed efficiency with organ characteristics and fatty liver haemorrhagic syndrome in laying hens
- Berberine Protects against High-Energy and Low-Protein Diet-Induced Hepatic Steatosis: Modulation of Gut Microbiota and Bile Acid Metabolism in Laying Hens
- Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip
- Celiac disease in childhood: evaluation of 140 patients
- Chiari I malformation as part of the Floating-Harbor syndrome?
- Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
- Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
- Commentary: The second step in syndrome delineation: who belongs and who does not? Thoughts generated by the paper on Floating-Harbor syndrome by White and colleagues
- Comprehensive Proteome and Acetyl-Proteome Atlas Reveals Hepatic Lipid Metabolism in Layer Hens with Fatty Liver Hemorrhagic Syndrome
- Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
- Dehydroepiandrosterone activates the GPER-mediated AMPK signaling pathway to alleviate the oxidative stress and inflammatory response in laying hens fed with high-energy and low-protein diets
- Dehydroepiandrosterone protects against oleic acid-triggered mitochondrial dysfunction to relieve oxidative stress and inflammation via activation of the AMPK-Nrf2 axis by targeting GPR30 in hepatocytes
- Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome
- Dietary supplementation of magnolol alleviates fatty liver hemorrhage syndrome in postpeak Xinhua laying hens via regulation of liver lipid metabolism
- Dietary supplementation of salidroside alleviates liver lipid metabolism disorder and inflammatory response to promote hepatocyte regeneration via PI3K/AKT/Gsk3-β pathway
- Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
- Enrichment efficiency of lutein in eggs and its function in improving fatty liver hemorrhagic syndrome in aged laying hens
- Epigenetic regulation of H3K27me3 in laying hens with fatty liver hemorrhagic syndrome induced by high-energy and low-protein diets
- Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
- Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes
- First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly
- Floating Harbor Syndrome
- Floating harbour syndrome with medial entropion: a rare association and brief review
- Floating-Harbor syndrome
- Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature
- Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation
- Floating-Harbor syndrome and provision of dental treatment: A case report of the dental considerations
- Floating-Harbor syndrome associated with middle ear abnormalities
- Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy
- Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report
- Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review
- Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism?
- Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other
- Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review
- Floating-Harbor syndrome with chorioretinal colobomas
- Floating-Harbor syndrome: a case report and literature review
- Floating-Harbor syndrome: a first female Turkish patient?
- Floating-Harbor Syndrome: A Rare Case Report
- Floating-Harbor Syndrome: A Systematic Literature Review and Case Report
- Floating-Harbor syndrome: case report
- Floating-Harbor syndrome: case report and craniofacial phenotype characterization
- Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency
- Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a <em>SRCAP</em> Mutation and Review of the Literature
- Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature
- Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance
- Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34
- Generation of an induced pluripotent stem cell line from a Chinese Han infant with floating-harbor syndrome accompanied with dilated cardiomyopathy
- Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)
- Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
- Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
- Growth hormone deficiency: an unusual presentation of floating harbor syndrome
- Identification of a novel frameshift variant in the SRCAP gene of a child with Floating-Harbor syndrome
- Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management
- Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation
- Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder
- Molecular cloning, characterization, and expression analysis of TIPE1 in chicken (Gallus gallus): Its applications in fatty liver hemorrhagic syndrome
- Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
- Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
- Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report
- Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP
- Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature
- Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome
- Ocular abnormalities in Floating-Harbor syndrome
- OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly or Herlyn-Werner-Wunderlich syndrome): Is it time for age-specific management?
- Osteocalcin activates lipophagy via the ADPN-AMPK/PPARα-mTOR signaling pathway in chicken embryonic hepatocyte
- Perthes disease: A new finding in Floating-Harbor syndrome
- Precocious puberty in a girl with floating-harbor syndrome
- Preparing the Frontlines: Delivering Special Pathogen Training to Maryland Hospital Staff
- Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion
- Quantitative lipidomics reveals lipid perturbation in the liver of fatty liver hemorrhagic syndrome in laying hens
- Renal Calculus in Floating-Harbor Syndrome: A Case Report
- Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum
- Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome
- Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1
- Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome
- Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome
- Sodium butyrate alleviates free fatty acid-induced steatosis in primary chicken hepatocytes via the AMPK/PPARα pathway
- Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study
- Taurine Protects against the Fatty Liver Hemorrhagic Syndrome in Laying Hens through the Regulation of Mitochondrial Homeostasis
- The ATPase SRCAP is associated with the mitotic apparatus, uncovering novel molecular aspects of Floating-Harbor syndrome
- The defining DNA methylation signature of Floating-Harbor Syndrome
- The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years
- The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
- The human SRCAP chromatin remodeling complex promotes DNA-end resection
- The phenotype of Floating-Harbor syndrome in 10 patients
- The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
- Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome
- Treatment of Moyamoya Disease and Unruptured Intracranial Aneurysm in Floating-Harbor Syndrome
- Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
- Ultra-rare mutations in <em>SRCAP</em> segregate in Caribbean Hispanic families with Alzheimer disease
- When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome
- Whole exome sequencing to identify genetic causes of short stature