PMC Articles for MedGen (Select 1648460) - PMC

Select item 86129301.

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

Fenja Markus, Annika Kannengießer, Patricia Näder, Paul Atigbire, Alexander Scholten, Christine Vössing, Eva Bültmann, G. Christoph Korenke, Marta Owczarek-Lipska, John Neidhardt

J Hum Genet. 2021; 66(12): 1159–1167. Published online 2021 Jul 1. doi: 10.1038/s10038-021-00947-5

PMCID:: PMC8612930

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Select item 84729242.

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

Anushree Acharya, Syed Irfan Raza, Muhammad Zeeshan Anwar, Thashi Bharadwaj, Khurram Liaqat, Muhammad Akram Shahzad Khokhar, Jenna L. Everard, Abdul Nasir, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Muhammad Ansar, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

J Hum Genet. 2021; 66(10): 1009–1018. Published online 2021 Apr 21. doi: 10.1038/s10038-021-00922-0

Correction in:: J Hum Genet. 2021; 66(10): 1019.

PMCID:: PMC8472924

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Select item 77855743.

METAP1 Mutation Is a Novel Candidate for Autosomal Recessive Intellectual Disability

Ahmet Okay Caglayan, Fesih Aktar, Kaya Bilguvar, Jacob F. Baranoski, Gozde Tugce Akgumus, Akdes Serin Harmanci, Emine Zeynep Erson-Omay, Katsuhito Yasuno, Huseyin Caksen, Murat Gunel

J Hum Genet. Author manuscript; available in PMC 2021 Feb 6.

Published in final edited form as: J Hum Genet. 2021 Feb; 66(2): 215–218. Published online 2020 Aug 6. doi: 10.1038/s10038-020-0820-0

PMCID:: PMC7785574

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Select item 67322884.

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

Miroslava Hancarova, Davit Babikyan, Sarka Bendova, Susanna Midyan, Darina Prchalova, Gohar Shahsuvaryan, Viktor Stranecky, Tamara Sarkisian, Zdenek Sedlacek

Mol Genet Genomic Med. 2019 Sep; 7(9): e865. Published online 2019 Jul 23. doi: 10.1002/mgg3.865

PMCID:: PMC6732288

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Select item 28489175.

Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation

Manèl Chograni, Myriam Chaabouni, Imen Chelly, Mohamed Bechir Helayem, Habiba Chaabouni-Bouhamed

Mol Vis. 2010; 16: 582–585. Published online 2010 Apr 3.

PMCID:: PMC2848917

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Select item 17346296.

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

V. Cormier-Daire, M. Chauvet, S. Lyonnet, M. Briard, A. Munnich, M. Le Merrer

J Med Genet. 2000 Jul; 37(7): 520–524. doi: 10.1136/jmg.37.7.520

PMCID:: PMC1734629

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Select item 12881257.

A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

Leanne Moynihan, Andrew P. Jackson, Emma Roberts, Gulshan Karbani, Ian Lewis, Peter Corry, Gwen Turner, Robert F. Mueller, Nicholas J. Lench, C. Geoffrey Woods

Am J Hum Genet. 2000 Feb; 66(2): 724–727. Published online 2000 Jan 19. doi: 10.1086/302777

PMCID:: PMC1288125

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Select item 12880928.

Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

M. Witsch-Baumgartner, B. U. Fitzky, M. Ogorelkova, H. G. Kraft, F. F. Moebius, H. Glossmann, U. Seedorf, G. Gillessen-Kaesbach, G. F. Hoffmann, P. Clayton, R. I. Kelley, G. Utermann

Am J Hum Genet. 2000 Feb; 66(2): 402–412. Published online 2000 Jan 24. doi: 10.1086/302760

PMCID:: PMC1288092

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