1 |
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.
62
5
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Kiper POS...Baron R
|
27355534 |
2016 |
2 |
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.
5
|
Sowinska-Seidler A...Jamsheer A
|
33193738 |
2020 |
3 |
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
53
62
|
Thiel CT...Rauch A
|
17701897 |
2007 |
4 |
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
53
62
|
Walter K...Unger S
|
17163530 |
2007 |
5 |
Genetic disorders involving adrenal development.
53
62
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Lin L...Achermann JC
|
17986825 |
2007 |
6 |
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
53
62
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Thiel CT...Rauch A
|
16252239 |
2005 |
7 |
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
53
62
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Bonafe L...Reymond A
|
16244706 |
2005 |
8 |
Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies.
53
62
|
Harris M...Walker J
|
14557425 |
2003 |
9 |
Spondylar dysplasia in type X collagenopathy.
53
62
|
Nishimura G...Ikegawa S
|
11214689 |
2001 |
10 |
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.
53
62
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Bonaventure J...Maroteaux P
|
7607655 |
1995 |
11 |
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
62
|
Tuysuz B...Vural M
|
36400164 |
2022 |
12 |
Phenotypic continuum between POLE-related recessive disorders: A case report and literature review.
62
|
Roberts ME...Juusola J
|
35860951 |
2022 |
13 |
A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.
62
|
Elhossini RM...Aglan M
|
36097642 |
2022 |
14 |
PKC isoforms activate LRRK1 kinase by phosphorylating conserved residues (Ser1064, Ser1074 and Thr1075) within the CORB GTPase domain.
62
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Malik AU...Alessi DR
|
36040231 |
2022 |
15 |
Craniofacial, dental, and molecular features of Pyle disease in a South African child.
62
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Chetty M...Wonkam A
|
36138002 |
2022 |
16 |
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
62
|
Simsek-Kiper PO...Girisha KM
|
36150098 |
2022 |
17 |
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.
62
|
van de Kamp JM...Finken MJJ
|
36175384 |
2022 |
18 |
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 |
19 |
Torticollis in Connection with Spine Phenotype.
62
|
Al Kaissi A...Ryabykh S
|
35885576 |
2022 |
20 |
Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric case presentation with associated mandibular swelling and a review of the literature.
62
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Chundoo S...McMillan K
|
35550322 |
2022 |
21 |
Risk Factors for Rebound After Correction of Genu Valgum in Skeletal Dysplasia Patients Treated by Tension Band Plates.
62
|
Ulusaloglu AC...Mackenzie WG
|
35051956 |
2022 |
22 |
Identification of Novel Compound Heterozygous Variants of MMP9 in Fetus With Metaphyseal Anadysplasia Type 2.
62
|
Cheng L...Duan J
|
36035187 |
2022 |
23 |
Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia.
62
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Lv S...Zhang Z
|
36118854 |
2022 |
24 |
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.
62
|
Del Borrello G...Dufour C
|
35663969 |
2022 |
25 |
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.
62
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Chorin O...Raas-Rothschild A
|
34798323 |
2022 |
26 |
Differential diagnosis of a diffuse sclerosis in an identified male skull (early 20th century Coimbra, Portugal): A multimethodological approach for the identification of osteosclerotic dysplasias in skeletonized individuals.
62
|
Magalhaes BM...Santos AL
|
34243133 |
2021 |
27 |
Musculoskeletal imaging manifestations of beta-thalassemia.
62
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Hajimoradi M...Chalian M
|
33559685 |
2021 |
28 |
A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma.
62
|
Bolomiti M...Januszkiewicz-Lewandowska D
|
34098225 |
2021 |
29 |
Further phenotypic features and two novel POC1A variants in a patient with SOFT syndrome: A case report.
62
|
Li S...He W
|
33955509 |
2021 |
30 |
Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.
62
|
Tuysuz B...Kafadar A
|
34000439 |
2021 |
31 |
Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea.
62
|
Namgoong H...Oh JH
|
33303724 |
2021 |
32 |
Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.
62
|
Hall CM...Mansour S
|
33567347 |
2021 |
33 |
Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.
62
|
Lugli L...Iughetti L
|
33444820 |
2021 |
34 |
Zebrafish model for spondylo-megaepiphyseal-metaphyseal dysplasia reveals post-embryonic roles of Nkx3.2 in the skeleton.
62
|
Smeeton J...Crump JG
|
33462117 |
2021 |
35 |
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.
62
|
Cinque L...Guarnieri V
|
33352647 |
2020 |
36 |
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4.
62
|
Fedida A...Falik-Zaccai TC
|
32827718 |
2020 |
37 |
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
62
|
Zhang G...Wang Y
|
32755715 |
2020 |
38 |
Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.
62
|
Binder G...Eggermann T
|
33076988 |
2020 |
39 |
Anesthetic management for cesarean delivery for a parturient with metaphyseal dysplasia and hypophosphatemic rickets.
62
|
Kennedy JP...Hasham F
|
32464576 |
2020 |
40 |
Wrist Joint Skeletal Changes in Children With Transfusion-dependent Thalassemia.
62
|
Dhawan P...Gupta S
|
32501918 |
2020 |
41 |
Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.
62
|
Howaldt A...Kornak U
|
32119750 |
2020 |
42 |
Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1.
62
|
Yamada M...Kosaki K
|
32412173 |
2020 |
43 |
Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).
62
|
Das L...Bhadada SK
|
32025536 |
2020 |
44 |
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.
62
|
Abdulhadi-Atwan M...Zangen D
|
32134183 |
2020 |
45 |
Unique Growing Rod Treatment with Prior Foundation Surgery for Spondylo-Epi-Metaphyseal Dysplasia with Severe Kyphoscoliosis: A Case Report.
62
|
Chiba T...Taneichi H
|
32864499 |
2020 |
46 |
'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.
62
|
Vakkilainen S...Makitie O
|
31413121 |
2020 |
47 |
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.
62
|
Miryounesi M...Rokni-Zadeh H
|
31571209 |
2020 |
48 |
New perspectives on the treatment of skeletal dysplasia.
62
|
Marzin P...Cormier-Daire V
|
32166011 |
2020 |
49 |
Pyle's Disease: A human model of differentiated cortical and trabecular homeostasis.
62
|
Arboleya L...Ballina J
|
29463445 |
2020 |
50 |
Metaphyseal dysplasia, Spahr type: a mimicker of rickets.
62
|
Balasubramaniyan M...Gopinathan NR
|
31413057 |
2019 |