1 |
Genotype-phenotype description of Vitamin-D Dependent Rickets 1A: CYP27B1 p.(Ala129Thr) variant induces a milder disease.
62
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Meaux MN...Molin A
|
36321535 |
2022 |
2 |
Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene.
62
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Abdalla AT...van der Eerden BCJ
|
35973571 |
2022 |
3 |
Prevalence and Related Risk Factors of Vitamin D Deficiency in Saudi Children with Epilepsy.
62
|
Al Khalifah R...Bashiri FA
|
36360424 |
2022 |
4 |
Plasma renin, aldosterone, and urinary prostaglandin E2 levels in children with hypocalcemia due to vitamin D deficiency rickets.
62
|
Doneray H...Orbak Z
|
35688409 |
2022 |
5 |
Genetic and clinical profile of patients with hypophosphatemic rickets.
62
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Marik B...Sharma A
|
35738466 |
2022 |
6 |
Robust osteogenic efficacy of 2α-heteroarylalkyl vitamin D analogue AH-1 in VDR (R270L) hereditary vitamin D-dependent rickets model rats.
62
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Nishikawa M...Sakaki T
|
35869242 |
2022 |
7 |
Identification of vitamin D-dependent rickets type IA caused by a mutation of the CYP27B1 using whole exome sequencing.
62
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Wang SF...Sheng J
|
35279323 |
2022 |
8 |
Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.
62
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Al Homyani DK...Alhemaiani SK
|
35663328 |
2022 |
9 |
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.
62
|
Lin Y...Zeng C
|
36405822 |
2022 |
10 |
Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.
62
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Wu H...Xu C
|
35832491 |
2022 |
11 |
Vitamin D-dependent Hypercalcemia.
62
|
Schlingmann KP
|
34774244 |
2021 |
12 |
Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.
62
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Dodamani MH...Bandgar TR
|
34492747 |
2021 |
13 |
Hereditary Vitamin-D Dependent Rickets Type II: A Case Report.
62
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Sunuwar N...Kandel K
|
34508408 |
2021 |
14 |
The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A.
62
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Ozden A...Doneray H
|
33823104 |
2021 |
15 |
Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b.
62
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Ozden A...Turkyilmaz A
|
33715104 |
2021 |
16 |
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.
62
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Kaygusuz SB...Turan S
|
33386952 |
2021 |
17 |
Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up.
62
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Li Y...Zhang Y
|
33004071 |
2020 |
18 |
Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature.
62
|
Dhull RS...Basu S
|
32926064 |
2020 |
19 |
Long-term dental intervention and laboratory examination in a patient with Vitamin D-dependent rickets type I: A case report.
62
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Liu AQ...Wei KW
|
33031289 |
2020 |
20 |
Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention.
62
|
Litaiem N...Khachemoune A
|
32645757 |
2020 |
21 |
Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1).
62
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Wiedemann A...Feillet F
|
32430692 |
2020 |
22 |
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?
62
|
Whyte MP...Mumm S
|
31843680 |
2020 |
23 |
Vitamin D-Resistant Rickets Diagnostics and Treatment Challenges at Muhimbili National Hospital, Tanzania.
62
|
Godfrey EK...Manji KP
|
32082647 |
2020 |
24 |
NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE-SITE MUTATION.
62
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Demir K...Shi Y
|
31557081 |
2020 |
25 |
Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.
62
|
Zou M...Shi Y
|
33329754 |
2020 |
26 |
Diagnosis and Management of Vitamin D Dependent Rickets.
62
|
Levine MA
|
32596195 |
2020 |
27 |
C-Terminal Fibroblast Growth Factor-23 Levels in Non-Nutritional Hypophosphatemic Rickets.
62
|
Bharati J...Bagga A
|
30835073 |
2019 |
28 |
Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations.
62
|
Thakur M
|
30967742 |
2019 |
29 |
Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A
62
|
Dursun F...Hacihamdioglu B
|
30282619 |
2019 |
30 |
A genetic variant of CYP2R1 identified in a cat with type 1B vitamin D-dependent rickets: a case report.
62
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Teshima T...Koyama H
|
30777056 |
2019 |
31 |
Oral Rehabilitation of a Pediatric Patient with Vitamin D-dependent Rickets II: A Rare Case Report.
62
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Chhonkar A...Kapoor V
|
31496578 |
2019 |
32 |
Efficacy of a Standardized Oral Vitamin D Dosing Regimen in Nursing Home Residents.
62
|
Toren-Wielema M...van Roon E
|
30345478 |
2018 |
33 |
Hypocalcaemic and hypophosphatemic rickets.
62
|
Lambert AS...Linglart A
|
30086869 |
2018 |
34 |
The good and the bad of vitamin D inactivation.
62
|
Demay MB
|
30080183 |
2018 |
35 |
Cortical Matrix Mineral Density Measured Noninvasively in Pre- and Postmenopausal Women and a Woman With Vitamin D-Dependent Rickets.
62
|
Chiang CY...Seeman E
|
29489033 |
2018 |
36 |
Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment.
62
|
Michalus I...Rusinska A
|
29417983 |
2018 |
37 |
Acute respiratory failure and generalized hypotonia secondary to vitamin D dependent rickets type 1A.
62
|
Ahmad N...Al Zaydi AM
|
30805538 |
2018 |
38 |
CYP3A4 mutation causes vitamin D-dependent rickets type 3.
62
|
Roizen JD...Levine MA
|
29461981 |
2018 |
39 |
Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia.
62
|
Gjorup H...Haubek D
|
28608052 |
2018 |
40 |
Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia.
62
|
Arif T...Amin SS
|
29589644 |
2018 |
41 |
Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report.
62
|
Vupperla D...Elaprolu P
|
29692463 |
2018 |
42 |
[Rickets/Osteomalacia. Vitamin D dependency.]
62
|
Kitanaka S
|
30269116 |
2018 |
43 |
Genetic Diseases of Vitamin D Metabolizing Enzymes.
62
|
Jones G...Schlingmann KP
|
29080636 |
2017 |
44 |
Genetic Causes of Rickets.
62
|
Acar S...Shi Y
|
29280738 |
2017 |
45 |
CYP2R1 mutations causing vitamin D-deficiency rickets.
62
|
Thacher TD...Levine MA
|
27473561 |
2017 |
46 |
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
62
|
Molin A...Feillet F
|
28548312 |
2017 |
47 |
Changes in bone metabolic parameters following oral calcium supplementation in an adult patient with vitamin D-dependent rickets type 2A.
62
|
Kinoshita Y...Fukumoto S
|
28367941 |
2017 |
48 |
WITHDRAWN: Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up.
62
|
Ruimin C...Ying Z
|
28587998 |
2017 |
49 |
Genetic disorders of Vitamin D biosynthesis and degradation.
62
|
Miller WL
|
27060335 |
2017 |
50 |
A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene.
62
|
Giannakopoulos A...Chrysis D
|
27287609 |
2017 |