Disease: Borjeson-Forssman-Lehmann syndrome
- 1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
- 1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family
- 1H, 13C and 15N resonance assignments and secondary structure of the human PHF6-ePHD1 domain
- A case of Borjeson-Forssman-Lehmann syndrome caused by PHF6 gene mutation
- A case report of PHF6 mosaicism: Beyond the classic Borjeson-Forssman-Lehmann syndrome
- A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
- A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome
- A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review
- A Novel Nonsense Mutation of <em>PHF6</em> in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
- A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
- A novel PHF6 mutation results in enhanced exon skipping and mild Borjeson-Forssman-Lehmann syndrome
- An unusual linear hypermelanosis reflecting lyonization in women with Borjeson-Forssman-Lehmann syndrome
- An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder
- Behavioural phenotype in Borjeson-Forssman-Lehmann syndrome
- Borjeson-Forssman-Lehmann syndrome
- Borjeson-Forssman-Lehmann syndrome
- Borjeson-Forssman-Lehmann syndrome
- Borjeson-Forssman-Lehmann syndrome and dilated cardiomyopathy: a previously unreported association
- Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency
- Borjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene
- Borjeson-Forssman-Lehmann syndrome in a girl
- Borjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation
- Borjeson-Forssman-Lehmann syndrome localization
- Borjeson-Forssman-Lehmann syndrome: A case report
- Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene
- Borjeson-Forssman-Lehmann Syndrome: Clinical Features and Diagnostic Challenges
- Borjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27
- Borjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
- Borjeson-Forssman-Lehmann syndrome: further delineation in five cases
- Borjeson-Forssman-Lehmann syndrome: report of a case
- Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family
- Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome
- Characterization of a Mouse Model of Borjeson-Forssman-Lehmann Syndrome
- Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27
- Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci
- Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response
- Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6
- Clinical confusion of the Noonan syndrome with the Borjeson-Forssman-Lehmann syndrome
- Confirmation of a new MR/male pseudohermaphroditism syndrome, Verloes type
- Dermatoglyphics in Borjeson-Forssman-Lehmann syndrome
- Distinct phenotype of PHF6 deletions in females
- Downregulation of PHF6 Inhibits Cell Proliferation and Migration in Hepatocellular Carcinoma
- Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome
- Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome
- Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
- Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6
- Further clinical delineation of the Borjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations
- Gene localization in Borjeson-Forssman-Lehmann syndrome and other X-linked mental retardation syndromes
- Linkage localization of Borjeson-Forssman-Lehmann syndrome
- Loss of PHF6 leads to aberrant development of human neuron-like cells
- Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome?
- Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?
- miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6
- Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
- Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome
- New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255
- Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome
- Numerous BAF complex genes are mutated in Coffin-Siris syndrome
- Pathogenesis of Borjeson-Forssman-Lehmann syndrome: Insights from PHF6 function
- PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein
- PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females
- PHF6 functions as a tumor suppressor by recruiting methyltransferase SUV39H1 to nucleolar region and offers a novel therapeutic target for PHF6-muntant leukemia
- PHF6 promotes non-homologous end joining and G2 checkpoint recovery
- PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis
- PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS
- Phf6-null hematopoietic stem cells have enhanced self-renewal capacity and oncogenic potentials
- Prader-Willi and other syndromes associated with obesity and mental retardation
- Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome
- Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity
- Radiation leukemia virus common integration at the Kis2 locus: simultaneous overexpression of a novel noncoding RNA and of the proximal Phf6 gene
- Refinement of the background genetic map of Xq26-q27 and gene localisation for Borjeson-Forssman-Lehmann Syndrome
- Sensorineural Hearing Loss and Mitochondrial Apoptosis of Cochlear Spiral Ganglion Neurons in Fibroblast Growth Factor 13 Knockout Mice
- SOX3 is an X-linked gene related to SRY
- Structural and functional insights into the human Borjeson-Forssman-Lehmann syndrome-associated protein PHF6
- Structural basis of plant homeodomain finger 6 (PHF6) recognition by the retinoblastoma binding protein 4 (RBBP4) component of the nucleosome remodeling and deacetylase (NuRD) complex
- T-cell acute lymphoblastic leukemia in association with Borjeson-Forssman-Lehmann syndrome due to a mutation in PHF6
- The Borjeson-Forssman-Lehmann syndrome
- The Borjeson-Forssman-Lehmann syndrome: a new case
- The Borjeson-Forssman-Lehmann syndrome. A family study
- The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations
- The depletion of PHF6 decreases the drug sensitivity of T-cell acute lymphoblastic leukemia to prednisolone
- The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
- The Role of PHF6 in Hematopoiesis and Hematologic Malignancies
- The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events
- The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain
- Transgenic mice with an R342X mutation in Phf6 display clinical features of Borjeson-Forssman-Lehmann Syndrome
- What have rare genetic syndromes taught us about the pathophysiology of the common forms of obesity?
- X Chromosome Inactivation Pattern and Pregnancy Outcome of Female Carriers of Pathogenic Heterozygous X-Linked Deletions