| 1 |
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
62
5
|
Isidor B...Toutain A
|
23956136 |
2013 |
| 2 |
Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.
62
|
Uzman CY...Bozkaya OG
|
35776137 |
2023 |
| 3 |
Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.
62
|
Otaify GA...Al-Maawali A
|
36243336 |
2022 |
| 4 |
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).
62
|
Masunaga Y...Ogata T
|
36224347 |
2022 |
| 5 |
Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy.
62
|
Pinto E...Alves JE
|
36136119 |
2022 |
| 6 |
A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.
62
|
Franceschi R...Maines E
|
35670300 |
2022 |
| 7 |
DDRGK1 is required for the proper development and maintenance of the growth plate cartilage.
62
|
Weisz-Hubshman M...Bae Y
|
35377455 |
2022 |
| 8 |
Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.
62
|
Obara K...Toyoshima I
|
36158050 |
2022 |
| 9 |
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.
62
|
Sabbagh Q...Genevieve D
|
35427807 |
2022 |
| 10 |
Tyrosine-sulfated dermatopontin shares multiple binding sites and recognition determinants on triple-helical collagens with proteins implicated in cell adhesion and collagen folding, fibrillogenesis, cross-linking, and degradation.
62
|
Jensen MM...Karring H
|
35306228 |
2022 |
| 11 |
Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review.
62
|
Yin LP...Zhu H
|
35434101 |
2022 |
| 12 |
Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report.
62
|
Omar AA...Owino L
|
34749805 |
2021 |
| 13 |
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
62
|
McMillan HJ...Kernohan KD
|
34405953 |
2021 |
| 14 |
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
62
|
Leoni C...Zampino G
|
34159694 |
2021 |
| 15 |
Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.
62
|
Akalin A...Boduroglu K
|
34089299 |
2021 |
| 16 |
Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia.
62
|
Reinsch B...Sanchez-Lara PA
|
33247527 |
2021 |
| 17 |
Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report.
62
|
Yadav AK...Mokashi M
|
35004383 |
2021 |
| 18 |
A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type.
62
|
Kalaoglu EE...Arman A
|
33859079 |
2021 |
| 19 |
Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
62
|
Nguyen DB...Fauroux B
|
33908178 |
2021 |
| 20 |
Corrigendum to UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report [European Journal of Medical Genetics, (2020) Nov; 63(11): 104021].
62
|
Zhang G...Wang Y
|
33514497 |
2021 |
| 21 |
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
62
|
Costantini A...Makitie O
|
32916022 |
2021 |
| 22 |
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
62
|
Botto LD...Superti-Furga A
|
33398909 |
2021 |
| 23 |
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
62
|
Micale L...Castori M
|
32959051 |
2020 |
| 24 |
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
62
|
Zhang G...Wang Y
|
32755715 |
2020 |
| 25 |
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
62
|
Abdullah...Ahmad W
|
32886330 |
2020 |
| 26 |
Growth in individuals with Saul-Wilson syndrome.
62
|
Ferreira CR...Bober MB
|
32652690 |
2020 |
| 27 |
[Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity].
62
|
Zhang J...Dong G
|
32761602 |
2020 |
| 28 |
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
62
|
Carvalho DR...Sobreira NLM
|
32420688 |
2020 |
| 29 |
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.
62
|
Shyamasundar LG...Madhuri V
|
31724101 |
2020 |
| 30 |
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature.
62
|
Bucerzan S...Grigorescu-Sido P
|
32760686 |
2020 |
| 31 |
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
62
|
Gaboon NEA...Wasif N
|
32766185 |
2020 |
| 32 |
Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome.
62
|
Shah A...Goel A
|
33216345 |
2020 |
| 33 |
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
62
|
Le Caignec C...Isidor B
|
31630789 |
2019 |
| 34 |
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
62
|
Chimusa ER...Ramesar RS
|
30358852 |
2019 |
| 35 |
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
62
|
Girisha KM...Mortier G
|
30488656 |
2019 |
| 36 |
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
62
|
Burrage LC...Lee B
|
30773277 |
2019 |
| 37 |
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.
62
|
Fukuhara Y...Nishimura G
|
30124491 |
2019 |
| 38 |
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
62
|
Van Damme T...Malfait F
|
29931299 |
2018 |
| 39 |
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
62
|
Simsek-Kiper PO...Alikasifoglu M
|
30063090 |
2018 |
| 40 |
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.
62
|
Ben-Mahmoud A...Al-Gazali L
|
29443383 |
2018 |
| 41 |
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
62
|
Sentchordi-Montane L...Heath KE
|
29464738 |
2018 |
| 42 |
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
62
|
Di Rocco M...Ceccherini I
|
28892125 |
2018 |
| 43 |
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations.
62
|
Trejo P...Campeau PM
|
29230159 |
2017 |
| 44 |
Novel pathogenic ACAN variants in non-syndromic short stature patients.
62
|
Hu X...Shen Y
|
28396070 |
2017 |
| 45 |
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
62
|
Moosa S...Vogel I
|
28328135 |
2017 |
| 46 |
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
62
|
Egunsola AT...Lee BH
|
28263186 |
2017 |
| 47 |
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
62
|
Machol K...Burrage LC
|
27888646 |
2017 |
| 48 |
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
62
|
Mizumoto S...Sugahara K
|
28346368 |
2017 |
| 49 |
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
62
|
Mierzewska H...Ploski R
|
27102849 |
2017 |
| 50 |
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
62
|
Girisha KM...Kutsche K
|
26669664 |
2016 |
