| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/AJMG.C.31408 |
| P698 | PubMed publication ID | 25099957 |
| P50 | author | Luitgard Graul-Neumann | Q30225287 |
| Franziska Degenhardt | Q34568248 | ||
| Siren Berland | Q50596711 | ||
| Christiane Zweier | Q56753445 | ||
| Nataliya Di Donato | Q84073354 | ||
| P2093 | author name string | Trevor Cole | |
| Dagmar Wieczorek | |||
| Juliane Hoyer | |||
| Sally Ann Lynch | |||
| Olaf Rittinger | |||
| Ingrid Bader | |||
| Ingrid Vlasak | |||
| P2860 | cites work | PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex | Q24338715 |
| Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient | Q24655837 | ||
| Nicolaides-Baraitser syndrome: Delineation of the phenotype | Q28252105 | ||
| Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome | Q28262110 | ||
| Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome | Q28262120 | ||
| Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene | Q29037119 | ||
| The biology of chromatin remodeling complexes | Q29620581 | ||
| Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6. | Q31814788 | ||
| Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome | Q34157672 | ||
| Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome | Q34257013 | ||
| The genetic basis of DOORS syndrome: an exome-sequencing study | Q34388873 | ||
| PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females | Q35546508 | ||
| Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability | Q35843242 | ||
| The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain. | Q36959286 | ||
| Coffin-Siris syndrome is a SWI/SNF complex disorder | Q41931846 | ||
| Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome | Q41938296 | ||
| A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. | Q44783752 | ||
| Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. | Q47821943 | ||
| Distinct phenotype of PHF6 deletions in females. | Q50668153 | ||
| A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. | Q50687726 | ||
| P433 | issue | 3 | |
| P304 | page(s) | 290-301 | |
| P577 | publication date | 2014-08-05 | |
| P1433 | published in | American Journal of Medical Genetics Part C: Seminars in Medical Genetics | Q15749239 |
| P1476 | title | Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome | |
| P478 | volume | 166C |
| Q41192685 | ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome |
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| Q48018126 | De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. |
| Q53600855 | Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. |
| Q101226475 | Loss of PHF6 leads to aberrant development of human neuron-like cells |
| Q35808496 | PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein |
| Q93194459 | Pseudoacromegaly |
| Q58050321 | Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery |
| Q27644320 | 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 |
| Q37264888 | The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events |
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