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Year Number of Results
1948 1
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1959 2
1960 5
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1962 5
1963 8
1964 7
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1967 2
1968 4
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1970 6
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1972 5
1973 3
1974 5
1975 3
1976 2
1977 2
1978 4
1979 2
1980 6
1981 1
1982 10
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1984 3
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1987 5
1988 2
1989 3
1990 5
1991 8
1992 2
1993 13
1994 1
1995 7
1996 4
1997 7
1998 4
1999 5
2000 1
2001 5
2002 7
2003 11
2004 5
2005 6
2006 6
2007 6
2008 8
2009 2
2010 8
2011 6
2012 11
2013 11
2014 17
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420 results

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Page 1
Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V. Cormier-Daire V. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. Best Pract Res Clin Rheumatol. 2008. PMID: 18328979 Review.
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.
Hordyjewska-Kowalczyk E, Wuyts W, Boeckx N, Verdonck A, Hendrickx G, Mortier G. Hordyjewska-Kowalczyk E, et al. Clin Genet. 2024 Apr;105(4):434-439. doi: 10.1111/cge.14474. Epub 2023 Dec 18. Clin Genet. 2024. PMID: 38108099 Review.
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB) is an ultra-rare skeletal dysplasia caused by heterozygous intragenic RUNX2 duplications, comprising either exons 3 to 5 or exons 3 to 6 of RUNX2. ...We review previously reported
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB) is an ultra-rare skeletal dysplasia caus
GPX4 in cell death, autophagy, and disease.
Xie Y, Kang R, Klionsky DJ, Tang D. Xie Y, et al. Autophagy. 2023 Oct;19(10):2621-2638. doi: 10.1080/15548627.2023.2218764. Epub 2023 Jun 4. Autophagy. 2023. PMID: 37272058 Free PMC article. Review.
Additionally, the R152H mutation in GPX4 can promote the development of Sedaghatian-type spinal metaphyseal dysplasia, a rare and fatal disease in newborns. Here, we discuss the roles of classical GPX4 functions as well as emerging GPX4-regulated processes in cell d …
Additionally, the R152H mutation in GPX4 can promote the development of Sedaghatian-type spinal metaphyseal dysplasia, a rare …
Cranio-metaphyseal dysplasia.
Gupta D, Sharma OP, Chaudhary AK, Gupta SK. Gupta D, et al. Australas Radiol. 1993 Feb;37(1):122-5. doi: 10.1111/j.1440-1673.1993.tb00032.x. Australas Radiol. 1993. PMID: 8323501
Cranio-metaphyseal dysplasia in two brothers, aged fourteen and twelve, is reported. Both brothers presented with deafness, repeated episodes of cold and cough and mouth breathing. ...The radiographic and clinical differentiation of cranio-metaphyseal dysp
Cranio-metaphyseal dysplasia in two brothers, aged fourteen and twelve, is reported. Both brothers presented with deafness, re …
Schmid Metaphyseal Chondrodysplasia.
Richmond CM, Savarirayan R. Richmond CM, et al. 2019 Oct 21 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2019 Oct 21 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 31633898 Free Books & Documents. Review.
Metaphyseal Dysplasia, Spahr Type; A Case Report of Variable Expressivity in Non-Consanguineous Filipino Siblings.
Panchapakesan K, Roper B, Mowrey K, Hillman P, Younas S. Panchapakesan K, et al. J Orthop Case Rep. 2022 Sep;12(9):20-25. doi: 10.13107/jocr.2022.v12.i09.2998. J Orthop Case Rep. 2022. PMID: 36873332 Free PMC article.
INTRODUCTION: Metaphyseal dysplasia describes a heterogenous group of skeletal dysplasias with varying inheritance patterns, which preferentially demonstrate dysplastic changes within the metaphyseal region of long bones. The clinical consequences of these dysplasti …
INTRODUCTION: Metaphyseal dysplasia describes a heterogenous group of skeletal dysplasias with varying inheritance patterns, w …
Metaphyseal dysplasia, Spahr type: a mimicker of rickets.
Balasubramaniyan M, Kaur A, Sinha A, Gopinathan NR. Balasubramaniyan M, et al. BMJ Case Rep. 2019 Aug 13;12(8):e230257. doi: 10.1136/bcr-2019-230257. BMJ Case Rep. 2019. PMID: 31413057 Free PMC article.
We present a case of a 7-year-old boy, finally diagnosed with metaphyseal dysplasia, Spahr type (MDST) (OMIM # 250400) after his exome sequencing revealed novel variations in the MMP13 gene (OMIM * 600108). ...
We present a case of a 7-year-old boy, finally diagnosed with metaphyseal dysplasia, Spahr type (MDST) (OMIM # 250400) after h …
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM. Simsek-Kiper PO, et al. Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36150098 Free PMC article. Review.
IMAGe Syndrome.
Schrier Vergano SA, Deardorff MA. Schrier Vergano SA, et al. 2014 Mar 13 [updated 2021 Aug 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Mar 13 [updated 2021 Aug 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24624461 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: IMAGe syndrome is an acronym for the major findings of intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary abnormalities (in males). ...
CLINICAL CHARACTERISTICS: IMAGe syndrome is an acronym for the major findings of intrauterine growth restriction (IUGR), metaphyseal
420 results