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Items: 1 to 20 of 273

1.

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R.

Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30.

2.

Fatty Acyl-CoA Reductase 1 Deficiency.

Swisher CN.

Pediatr Neurol Briefs. 2015 Jan;29(1):6. doi: 10.15844/pedneurbriefs-29-1-5.

3.

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N.

Hum Mutat. 2012 Jan;33(1):189-97. doi: 10.1002/humu.21623. Epub 2011 Oct 31.

PMID:
21990100
4.

Rhizomelic Chondrodysplasia Punctata Type 1.

Braverman NE, Moser AB, Steinberg SJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Nov 16 [updated 2012 Sep 13].

5.

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Majoie CB, Duran M, Wanders RJ, Van Hove J, Scheurer CD, Barth PG, Poll-The BT.

Neurology. 2006 Mar 28;66(6):798-803; discussion 789.

PMID:
16567694
6.

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I.

Am J Med Genet A. 2016 Nov;170(11):2927-2933. doi: 10.1002/ajmg.a.37792. Epub 2016 Jun 22.

PMID:
27333055
7.

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E.

Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28.

PMID:
26220973
8.

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB.

Am J Med Genet A. 2017 Jan;173(1):108-113. doi: 10.1002/ajmg.a.37961. Epub 2016 Sep 12.

PMID:
27616591
9.

Rhizomelic chondrodysplasia punctata and cardiac pathology.

Huffnagel IC, Clur SA, Bams-Mengerink AM, Blom NA, Wanders RJ, Waterham HR, Poll-The BT.

J Med Genet. 2013 Jul;50(7):419-24. doi: 10.1136/jmedgenet-2013-101536. Epub 2013 Apr 9.

PMID:
23572185
10.

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C.

J Med Genet. 2012 Dec;49(12):731-6. doi: 10.1136/jmedgenet-2012-101251. Epub 2012 Oct 25.

PMID:
23099646
11.

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.

Purdue PE, Zhang JW, Skoneczny M, Lazarow PB.

Nat Genet. 1997 Apr;15(4):381-4.

PMID:
9090383
12.

The neurology of rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT.

Orphanet J Rare Dis. 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174.

13.

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, Matsumoto N, Saitsu H.

Epilepsia. 2014 Feb;55(2):e13-7. doi: 10.1111/epi.12508. Epub 2014 Jan 13.

14.

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D.

Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011.

15.

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.

Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N.

Am J Med Genet A. 2010 Jul;152A(7):1812-7. doi: 10.1002/ajmg.a.33489.

PMID:
20583171
16.

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Müller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F.

Eur J Hum Genet. 2010 Oct;18(10):1100-6. doi: 10.1038/ejhg.2010.79. Epub 2010 May 26.

17.

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

Faqeih EA, Al-Owain M, Colak D, Kenana R, Al-Yafee Y, Al-Dosary M, Al-Saman A, Albalawi F, Al-Sarar D, Domiaty D, Daghestani M, Kaya N.

Am J Med Genet A. 2014 Jun;164A(6):1565-70. doi: 10.1002/ajmg.a.36482. Epub 2014 Mar 25.

PMID:
24668509
18.

Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.

Malheiro AR, da Silva TF, Brites P.

J Inherit Metab Dis. 2015 Jan;38(1):111-21. doi: 10.1007/s10545-014-9795-3. Epub 2014 Nov 29. Review.

PMID:
25432520
19.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM.

Am J Hum Genet. 2018 Oct 4;103(4):602-611. doi: 10.1016/j.ajhg.2018.08.014. Epub 2018 Sep 27.

20.

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y.

Am J Hum Genet. 2016 Apr 7;98(4):615-26. doi: 10.1016/j.ajhg.2016.02.007. Epub 2016 Mar 17.

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