Detalhe da pesquisa
1.
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
J Med Genet
; 60(5): 498-504, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36241386
2.
Nosology of genetic skeletal disorders: 2023 revision.
Am J Med Genet A
; 191(5): 1164-1209, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779427
3.
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Hum Mutat
; 43(5): 625-642, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266227
4.
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
Am J Hum Genet
; 103(2): 288-295, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032985
5.
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.
Am J Med Genet A
; 182(2): 338-347, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31755234
6.
Fibrous Dysplasia, Paget's Disease of Bone, and Other Uncommon Sclerotic Bone Lesions of the Craniofacial Bones.
Semin Musculoskelet Radiol
; 24(5): 570-578, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33036044
7.
Nosology and classification of genetic skeletal disorders: 2019 revision.
Am J Med Genet A
; 179(12): 2393-2419, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633310
8.
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Nature
; 489(7415): 313-7, 2012 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22885700
9.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Hum Mol Genet
; 23(11): 2888-900, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24403048
10.
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
Am J Hum Genet
; 91(1): 146-51, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22683086
11.
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Am J Hum Genet
; 90(3): 494-501, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22387013
12.
A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.
Am J Med Genet A
; 164A(4): 898-906, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24478176
13.
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.
Am J Hum Genet
; 87(1): 95-100, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602915
14.
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
J Med Genet
; 49(4): 227-33, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22499340
15.
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Nat Genet
; 36(11): 1213-8, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15489854
16.
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Hum Mutat
; 33(1): 144-57, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21922596
17.
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
Am J Med Genet C Semin Med Genet
; 160C(3): 205-16, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22791362
18.
Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles.
Eur J Med Genet
; 65(6): 104521, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568358
19.
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Nat Rev Endocrinol
; 18(3): 173-189, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837063
20.
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Am J Med Genet A
; 155A(1): 22-32, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204207