about
Pfeiffer syndromeLujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationDisruptions of the novel KIAA1202 gene are associated with X-linked mental retardationMutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasiaMutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transportMutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationHigh prevalence of SLC6A8 deficiency in X-linked mental retardationMutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationX-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyTranscription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencyFOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationLoss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeMutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationZinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasiaMutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyRe-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndromePhenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patientsARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationMutations in NOTCH2 in families with Hajdu-Cheney syndromeDe novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeCarrier testing in minors: a systematic review of guidelines and position papersThe genetic basis of the Pierre Robin SequenceNovel JARID1C/SMCX mutations in patients with X-linked mental retardationThe C20orf133 gene is disrupted in a patient with Kabuki syndromeX-chromosome polysomy in the maleThe East Flanders Prospective Twin Survey (EFPTS).X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
P50
Q21093176-7F22D8C7-720D-47F8-85B4-8572E7283805Q21203044-E65D15D8-B41B-4620-9A13-6D70463927ECQ24292446-5E836FE8-E235-4455-BF63-E32722F69DC5Q24292830-914C41D3-AF7B-49BA-A847-8CE745102141Q24301631-AC0733C6-DA02-4314-8A91-BB80D723501DQ24530632-9D2A5F8B-8071-4302-B093-6BF746EBF1C4Q24532051-9D15917A-7832-4201-ABB1-D70531C7AD0DQ24532155-865190C9-19C6-414D-AFDE-C6E09C5A7211Q24533559-5ADB0FDB-30D3-4C62-8440-495547FE7ED1Q24534159-4C1200ED-EB9E-47A1-97ED-9AA7017BDABEQ24534259-C3944119-75D1-49B5-8D1E-9B5422FC7E37Q24561792-225C644F-44B0-46FB-A075-E936D0935750Q24610524-B6923832-5511-487D-9CB8-DC0C0CAA2F2AQ24669780-FF37A185-E879-41E1-8459-4CE1B183A16FQ28186625-64AB8AE3-CA0B-4DE4-BAE3-4FBD8F080E67Q28201002-17F70EFF-93C4-45C6-A393-ED48A6674157Q28206529-B9A06F30-AF51-4A48-807E-A1480B60EEB7Q28207243-92905502-848E-4FBB-94A0-935A2D97068CQ28210106-54203F29-6C92-4748-9030-8E379AAA8CABQ28215614-0E8CB3F8-EDB4-460F-AB12-DE30D7FAE413Q28241047-4DE75714-A3FA-4852-AB91-8ADB768F33AFQ28260677-AEF4E0D0-AF69-4ADF-A8C7-A6BF0499D42EQ28280188-3AD31865-277C-4CD1-A5FC-E2220B2AF762Q28301095-FAF63AA9-9117-49A4-9CA7-ABD92E48752EQ28302378-925BEE68-21BF-4D5C-9A12-0E4C415C57B2Q28512053-8158BF35-4378-46FE-9DA9-AEB616025E2EQ29036964-A68EED0F-308D-4951-9991-1C12D3A3E3A3Q30882444-6D8A0319-D0A3-4EDB-91FD-A1192DBDFF4AQ30997373-B2FBEE3D-6936-4E61-AEC4-313718CC02D4
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Jean-Pierre Fryns
@ast
Jean-Pierre Fryns
@en
Jean-Pierre Fryns
@es
Jean-Pierre Fryns
@nl
Jean-Pierre Fryns
@sl
type
label
Jean-Pierre Fryns
@ast
Jean-Pierre Fryns
@en
Jean-Pierre Fryns
@es
Jean-Pierre Fryns
@nl
Jean-Pierre Fryns
@sl
prefLabel
Jean-Pierre Fryns
@ast
Jean-Pierre Fryns
@en
Jean-Pierre Fryns
@es
Jean-Pierre Fryns
@nl
Jean-Pierre Fryns
@sl