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Table representation of search results timeline featuring number of search results per year.

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1957 1
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1981 2
1985 5
1986 4
1987 6
1988 13
1989 7
1990 9
1991 12
1992 10
1993 13
1994 8
1995 10
1996 12
1997 11
1998 20
1999 15
2000 8
2001 12
2002 10
2003 12
2004 2
2005 4
2006 5
2007 7
2008 3
2009 2
2010 5
2011 10
2012 13
2013 8
2014 8
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2016 6
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2023 6
2024 2

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331 results

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Page 1
Rhizomelic Chondrodysplasia Punctata Type 1.
Braverman NE, Steinberg SJ, Fallatah W, Duker A, Bober MB. Braverman NE, et al. 2001 Nov 16 [updated 2020 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Nov 16 [updated 2020 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301447 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Rhizomelic chondrodysplasia punctata type 1 (RCDP1), a peroxisome biogenesis disorder (PBD) has a classic (severe) form and a nonclassic (mild) form. Classic (severe) RCDP1 is characterized by proximal shortening of the humerus (rhiz …
CLINICAL CHARACTERISTICS: Rhizomelic chondrodysplasia punctata type 1 (RCDP1), a peroxisome biogenesis disorder (PBD) h …
[Rhizomelic chondrodysplasia punctata].
Masuno M. Masuno M. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):281-3. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057229 Review. Japanese. No abstract available.
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
İli EG, Gezdirici A, Di Pietro E, Yergeau C, Braverman N. İli EG, et al. Am J Med Genet A. 2022 Nov;188(11):3229-3235. doi: 10.1002/ajmg.a.62959. Epub 2022 Aug 20. Am J Med Genet A. 2022. PMID: 35986576 Review.
Rhizomelic chondrodysplasia punctata (RCDP) are a group of peroxisomal disorders caused by plasmalogen synthesis defects. Patients with RCDP present with rhizomelic short stature, characteristic punctate epiphyseal calcifications, congenital cataracts, …
Rhizomelic chondrodysplasia punctata (RCDP) are a group of peroxisomal disorders caused by plasmalogen synthesis defect …
Chondrodysplasia Punctata 2, X-Linked.
Kumble S, Savarirayan R. Kumble S, et al. 2011 May 31 [updated 2020 Jan 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2011 May 31 [updated 2020 Jan 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 21634086 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. ... …
CLINICAL CHARACTERISTICS: The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple m …
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.
Landino J, Jnah AJ, Newberry DM, Iben SC. Landino J, et al. J Perinat Neonatal Nurs. 2017 Oct/Dec;31(4):350-357. doi: 10.1097/JPN.0000000000000282. J Perinat Neonatal Nurs. 2017. PMID: 29068853 Review.
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. ...
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence …
A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate.
Javaid HA, Fawzy NA, Mostafa R, Shehata N. Javaid HA, et al. Cureus. 2022 Nov 20;14(11):e31702. doi: 10.7759/cureus.31702. eCollection 2022 Nov. Cureus. 2022. PMID: 36561594 Free PMC article.
Rhizomelic chondrodysplasia punctata (RCDP) is a rare, multisystem, autosomal recessive, peroxisomal disorder of a family of congenital disorders known as chondrodysplasia calcificans punctate (CCP). ...X-ray of the limbs showed punctate calcifications …
Rhizomelic chondrodysplasia punctata (RCDP) is a rare, multisystem, autosomal recessive, peroxisomal disorder of a fami …
Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy.
Samanta D. Samanta D. eNeurologicalSci. 2019 Dec 4;18:100218. doi: 10.1016/j.ensci.2019.100218. eCollection 2020 Mar. eNeurologicalSci. 2019. PMID: 31853509 Free PMC article.
Progressive deterioration of neuroimaging and electroencephalography (EEG) had been described in rhizomelic chondrodysplasia punctata (RCDP); however, serial EEG data showing sequential EEG changes(before and after seizure onset) is lacking. ...
Progressive deterioration of neuroimaging and electroencephalography (EEG) had been described in rhizomelic chondrodysplasia …
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.
Gerami R, Barkhordari S. Gerami R, et al. J Ultrasound. 2023 Jun;26(2):539-542. doi: 10.1007/s40477-022-00737-5. Epub 2022 Oct 31. J Ultrasound. 2023. PMID: 36315400
BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive inherited subtype of a family of congenital anomalies known as chondrodysplasia calcificans punctate (CCP). Given their low rate of occurrence, these cases are highly …
BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive inherited subtype of a family of …
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjogren-Larsson syndrome.
Malheiro AR, da Silva TF, Brites P. Malheiro AR, et al. J Inherit Metab Dis. 2015 Jan;38(1):111-21. doi: 10.1007/s10545-014-9795-3. Epub 2014 Nov 29. J Inherit Metab Dis. 2015. PMID: 25432520 Review.
Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbone and by the observation that their deficiency causes rhizomelic chondrodysplasia punctata (RCDP). The complex plasmal …
Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbo …
331 results