about
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaFurther delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisADAMTS10 mutations in autosomal recessive Weill-Marchesani syndromeA novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type IIISHOX point mutations in dyschondrosteosisAllelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.Identification of mutations in CUL7 in 3-M syndrome.A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.High incidence of SHOX anomalies in individuals with short stature.WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.Identification of CANT1 mutations in Desbuquois dysplasia.XYLT1 mutations in Desbuquois dysplasia type 2.Ciliary disorder of the skeleton.Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families.A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOXMosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risksIMPAD1 mutations in two Catel-Manzke like patientsThe 3M syndromeHip dislocation in 3-M syndromeA new osteogenesis imperfecta with improvement over time maps to 11qClinical and Radiological Characteristics of 22 Children with SHOX Anomalies and Familial Short Stature Suggestive of Léri-Weill DyschondrosteosisOBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levelsSevere, atypical form of dyschondrosteosis (report of two cases)
P50
Q24307279-129DE110-A7E1-4091-99AE-8C9057CABEFBQ24317477-6D656879-5950-4C7F-B87E-46C9EC1B8D51Q24534081-AB73ACBF-AB06-409F-B4E9-C6C807358E1EQ24536310-D4B54305-FAC0-47E8-AEA3-AF1C0E68B680Q24645415-558A4660-FF6C-4027-AF42-21654F07EFC3Q24680271-F1A015B8-D348-4C6D-A854-CCE7E6685863Q28206815-7DC5E055-796B-40F4-9779-6CF5B94AF53DQ29465790-DA81F991-272E-4CC6-A4D8-B206783D24F1Q33909639-BD066161-85BC-4300-9925-7834CB9659D2Q34376246-5E29E9A8-042D-4728-86BB-ECB13C05111FQ34448386-4506F456-9965-49EA-A959-5DAB21728D48Q34597794-D17CC884-6A64-446C-9F75-627C3BDA9C86Q34610407-AD5C86B4-A122-46B2-A19C-AC9FF4049C94Q34657870-1C6E658B-F333-4480-A411-405BCFA77D7DQ36930156-B6561413-B0CD-48C4-9BF3-B94C6C83D3BDQ37298127-74133DD1-5DE4-4561-9688-CE3C62D070AEQ37417858-85107EAD-EBA7-4691-9FBF-FBC90F1B2EA2Q37634126-1D18EAA4-E2E7-41BB-AE96-1995AE9D4FDDQ38026010-241CE7B3-49AF-4E8E-9742-EC91349A72A6Q38075867-9104B0ED-B8AF-43EC-BAB8-11CA3E72D619Q38948750-2D00EDA4-D259-4841-A0D4-32DB95AA3552Q40746137-96D2A8C8-7E67-4F78-9F20-AD3AAADD29EEQ41973119-9B5245A3-7AF0-489A-B645-A065BB95A8B8Q42917917-45E8A5D7-1072-4965-AAFB-A6E3EE1A89A0Q43073658-E0B0EEA1-A081-4AA0-8BC4-6B7162360B22Q43084724-F8D81D0D-F1D7-4B8D-AD8B-F394AE314D59Q50615596-D7209085-C560-44CC-AD43-1370C351D491Q51126231-6ECB5467-7562-464C-985D-5B6584E71B90Q53174375-E01FDF10-C07D-4B70-8D0F-706FE1425ED4Q55016377-8A3859EB-C315-4EE1-8F57-5AF4986C4B3BQ55279405-42739D59-3833-4713-AF54-169687845C13Q57499910-B1FC8B30-2C16-4132-8BD6-92529B0AF2F8Q57499935-23DC73A0-C89E-4CA2-A967-A7622F6B085AQ57921842-574521F3-13DE-43B9-8E2D-152D3125C267Q59406166-1F137943-EF45-41AF-82EA-ACC9754AFF17Q62019287-743E5B81-ED94-4E3E-9FDB-EC60A689EEABQ62019294-A6E9E3AF-1BEA-4BB5-A66D-A395ABEA7036Q63681401-79BEC3DF-BEE8-4734-8B69-CF7C12300B47Q63681403-3CE03FA3-EB80-4282-BF72-CE4F7F149E5FQ63681412-9608FD6F-7E6E-4D62-A8EF-CB20B9B97FE9
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Celine Huber
@ast
Celine Huber
@en
Celine Huber
@es
Celine Huber
@nl
type
label
Celine Huber
@ast
Celine Huber
@en
Celine Huber
@es
Celine Huber
@nl
prefLabel
Celine Huber
@ast
Celine Huber
@en
Celine Huber
@es
Celine Huber
@nl
P106
P21
P31
P496
0000-0002-8601-9655