| 1 |
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.
61
6
|
Kiper POS...Baron R
|
27355534 |
2016 |
| 2 |
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.
6
|
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.
61
54
|
Thiel CT...Rauch A
|
17701897 |
2007 |
| 4 |
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
61
54
|
Walter K...Unger S
|
17163530 |
2007 |
| 5 |
Genetic disorders involving adrenal development.
54
61
|
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.
61
54
|
Thiel CT...Rauch A
|
16252239 |
2005 |
| 7 |
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
61
54
|
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.
61
54
|
Harris M...Walker J
|
14557425 |
2003 |
| 9 |
Spondylar dysplasia in type X collagenopathy.
61
54
|
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.
61
54
|
Bonaventure J...Maroteaux P
|
7607655 |
1995 |
| 11 |
Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea.
61
|
Namgoong H...Oh JH
|
33303724 |
2021 |
| 12 |
Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.
61
|
Hall CM...Mansour S
|
33567347 |
2021 |
| 13 |
Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.
61
|
Lugli L...Iughetti L
|
33444820 |
2021 |
| 14 |
Musculoskeletal imaging manifestations of beta-thalassemia.
61
|
Hajimoradi M...Chalian M
|
33559685 |
2021 |
| 15 |
Zebrafish model for spondylo-megaepiphyseal-metaphyseal dysplasia reveals post-embryonic roles of Nkx3.2 in the skeleton.
61
|
Smeeton J...Crump JG
|
33462117 |
2021 |
| 16 |
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.
61
|
Cinque L...Guarnieri V
|
33352647 |
2020 |
| 17 |
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
61
|
Zhang G...Wang Y
|
32755715 |
2020 |
| 18 |
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4.
61
|
Fedida A...Falik-Zaccai TC
|
32827718 |
2020 |
| 19 |
Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.
61
|
Binder G...Eggermann T
|
33076988 |
2020 |
| 20 |
Anesthetic management for cesarean delivery for a parturient with metaphyseal dysplasia and hypophosphatemic rickets.
61
|
Kennedy JP...Hasham F
|
32464576 |
2020 |
| 21 |
Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.
61
|
Howaldt A...Kornak U
|
32119750 |
2020 |
| 22 |
Wrist Joint Skeletal Changes in Children With Transfusion-dependent Thalassemia.
61
|
Dhawan P...Gupta S
|
32501918 |
2020 |
| 23 |
Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1.
61
|
Yamada M...Kosaki K
|
32412173 |
2020 |
| 24 |
Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).
61
|
Das L...Bhadada SK
|
32025536 |
2020 |
| 25 |
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.
61
|
Abdulhadi-Atwan M...Zangen D
|
32134183 |
2020 |
| 26 |
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.
61
|
Miryounesi M...Rokni-Zadeh H
|
31571209 |
2020 |
| 27 |
Unique Growing Rod Treatment with Prior Foundation Surgery for Spondylo-Epi-Metaphyseal Dysplasia with Severe Kyphoscoliosis: A Case Report.
61
|
Chiba T...Taneichi H
|
32864499 |
2020 |
| 28 |
Pyle's Disease: A human model of differentiated cortical and trabecular homeostasis.
61
|
Arboleya L...Ballina J
|
29463445 |
2020 |
| 29 |
Wrist Joint Skeletal Changes in Children With Transfusion-Dependent Thalassemia.
61
|
Dhawan P...Gupta S
|
32011549 |
2020 |
| 30 |
'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.
61
|
Vakkilainen S...Makitie O
|
31413121 |
2020 |
| 31 |
New perspectives on the treatment of skeletal dysplasia.
61
|
Marzin P...Cormier-Daire V
|
32166011 |
2020 |
| 32 |
Metaphyseal dysplasia, Spahr type: a mimicker of rickets.
61
|
Balasubramaniyan M...Gopinathan NR
|
31413057 |
2019 |
| 33 |
Sfrp4 repression of the Ror2/Jnk cascade in osteoclasts protects cortical bone from excessive endosteal resorption.
61
|
Chen K...Gori F
|
31239337 |
2019 |
| 34 |
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 |
| 35 |
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.
61
|
Simsek-Kiper PO...Boduroglu K
|
29704686 |
2019 |
| 36 |
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
61
|
Suntharalingham JP...Achermann JC
|
31497289 |
2019 |
| 37 |
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
61
|
Campos-Xavier B...Superti-Furga A
|
30284759 |
2018 |
| 38 |
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
61
|
Logan CV...Jackson AP
|
30503519 |
2018 |
| 39 |
Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center.
61
|
Ye Z...Wu B
|
30308536 |
2018 |
| 40 |
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
61
|
Tan QK...Pena LDM
|
29970384 |
2018 |
| 41 |
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 |
| 42 |
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.
61
|
Al-Yassin A...Wakeling EL
|
29891876 |
2018 |
| 43 |
[Spondyloenchondrodysplasia with immune dysregulation: a case report and literature review].
61
|
Zhong LQ...He YY
|
30078244 |
2018 |
| 44 |
Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade.
61
|
Rigante D...Leone A
|
29766377 |
2018 |
| 45 |
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
61
|
Kim YM...Yoo HW
|
29506479 |
2018 |
| 46 |
Evaluation of AAPM Reports 204 and 220: Estimation of effective diameter, water-equivalent diameter, and ellipticity ratios for chest, abdomen, pelvis, and head CT scans.
61
|
Burton CS...Szczykutowicz TP
|
29178549 |
2018 |
| 47 |
Frontal cranioplasty in fronto-metaphyseal dysplasia.
61
|
Joly A...Laure B
|
28619674 |
2017 |
| 48 |
Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
61
|
Notarangelo LD
|
28446799 |
2017 |
| 49 |
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
61
|
Guo L...Ikegawa S
|
28331220 |
2017 |
| 50 |
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.
61
|
Chatron N...Rossi M
|
28090630 |
2017 |
