| 1 |
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
61
6
|
Isidor B...Toutain A
|
23956136 |
2013 |
| 2 |
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
61
|
Botto LD...Superti-Furga A
|
33398909 |
2021 |
| 3 |
Corrigendum to UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report [European Journal of Medical Genetics, (2020) Nov; 63(11): 104021].
61
|
Zhang G...Wang Y
|
33514497 |
2021 |
| 4 |
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
61
|
Costantini A...Makitie O
|
32916022 |
2021 |
| 5 |
Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia.
61
|
Reinsch B...Sanchez-Lara PA
|
33247527 |
2020 |
| 6 |
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
61
|
Zhang G...Wang Y
|
32755715 |
2020 |
| 7 |
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
61
|
Micale L...Castori M
|
32959051 |
2020 |
| 8 |
Growth in individuals with Saul-Wilson syndrome.
61
|
Ferreira CR...Bober MB
|
32652690 |
2020 |
| 9 |
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
61
|
Abdullah...Ahmad W
|
32886330 |
2020 |
| 10 |
[Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity].
61
|
Zhang J...Dong G
|
32761602 |
2020 |
| 11 |
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
61
|
Carvalho DR...Sobreira NLM
|
32420688 |
2020 |
| 12 |
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.
61
|
Shyamasundar LG...Madhuri V
|
31724101 |
2020 |
| 13 |
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
61
|
Gaboon NEA...Wasif N
|
32766185 |
2020 |
| 14 |
Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome.
61
|
Shah A...Goel A
|
33216345 |
2020 |
| 15 |
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature.
61
|
Bucerzan S...Grigorescu-Sido P
|
32760686 |
2020 |
| 16 |
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
61
|
Le Caignec C...Isidor B
|
31630789 |
2019 |
| 17 |
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
61
|
Chimusa ER...Ramesar RS
|
30358852 |
2019 |
| 18 |
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
61
|
Girisha KM...Mortier G
|
30488656 |
2019 |
| 19 |
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
61
|
Burrage LC...Lee B
|
30773277 |
2019 |
| 20 |
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.
61
|
Fukuhara Y...Nishimura G
|
30124491 |
2019 |
| 21 |
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
61
|
Van Damme T...Malfait F
|
29931299 |
2018 |
| 22 |
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
61
|
Simsek-Kiper PO...Alikasifoglu M
|
30063090 |
2018 |
| 23 |
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
61
|
Sentchordi-Montane L...Heath KE
|
29464738 |
2018 |
| 24 |
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.
61
|
Ben-Mahmoud A...Al-Gazali L
|
29443383 |
2018 |
| 25 |
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
61
|
Di Rocco M...Ceccherini I
|
28892125 |
2018 |
| 26 |
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations.
61
|
Trejo P...Campeau PM
|
29230159 |
2017 |
| 27 |
Novel pathogenic ACAN variants in non-syndromic short stature patients.
61
|
Hu X...Shen Y
|
28396070 |
2017 |
| 28 |
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
61
|
Moosa S...Vogel I
|
28328135 |
2017 |
| 29 |
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
61
|
Egunsola AT...Lee BH
|
28263186 |
2017 |
| 30 |
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
61
|
Machol K...Burrage LC
|
27888646 |
2017 |
| 31 |
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
61
|
Mizumoto S...Sugahara K
|
28346368 |
2017 |
| 32 |
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
61
|
Mierzewska H...Ploski R
|
27102849 |
2017 |
| 33 |
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
61
|
Girisha KM...Kutsche K
|
26669664 |
2016 |
| 34 |
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases.
61
|
Gibson BG...Briggs MD
|
27353333 |
2016 |
| 35 |
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
61
|
Cho SY...Jin DK
|
27236923 |
2016 |
| 36 |
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder.
61
|
Honey EM
|
27245527 |
2016 |
| 37 |
Multiple functions of the first EGF domain in matrilin-3: Secretion and endoplasmic reticulum stress.
61
|
Wang YC...Luo JM
|
26499313 |
2015 |
| 38 |
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
61
|
Merrick B...Wakeling E
|
26250472 |
2015 |
| 39 |
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
61
|
Faden M...Alkuraya FS
|
26365341 |
2015 |
| 40 |
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.
61
|
Vorster AA...Ramesar RS
|
24766538 |
2015 |
| 41 |
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.
61
|
Dupuis N...El Ghouzzi V
|
25652408 |
2015 |
| 42 |
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.
61
|
Tuysuz B...Gunel M
|
25256152 |
2015 |
| 43 |
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
61
|
Ritelli M...Colombi M
|
28649518 |
2015 |
| 44 |
Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type.
61
|
Szigiato AA...Muni RH
|
25383842 |
2015 |
| 45 |
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.
61
|
Mizumoto S...Sugahara K
|
26582078 |
2015 |
| 46 |
Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells.
61
|
Jayasuriya CT...Chen Q
|
25196597 |
2014 |
| 47 |
Occipitocervical fusion in skeletal dysplasia: a new surgical technique.
61
|
Sitoula P...Rogers KJ
|
24825152 |
2014 |
| 48 |
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
61
|
Sellars EA...Schaefer GB
|
25149931 |
2014 |
| 49 |
A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.
61
|
Seven M...Ulucan H
|
24300288 |
2014 |
| 50 |
Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis.
61
|
Latrech H...Chradibi A
|
24575553 |
2013 |
