Kausar M - Search Results

1

SGCD Homozygous Nonsense Mutation (p.Arg97^∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.

Younus M, Ahmad F, Malik E, Bilal M, Kausar M, Abbas S, Shaheen S, Kakar MU, Alfadhel M, Umair M. Younus M, et al. Among authors: kausar m. Front Genet. 2019 Jan 23;9:727. doi: 10.3389/fgene.2018.00727. eCollection 2018. Front Genet. 2019. PMID: 30733730 Free PMC article.

2

Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M. Hayat A, et al. Among authors: kausar m. Eur J Med Genet. 2020 Aug;63(8):103954. doi: 10.1016/j.ejmg.2020.103954. Epub 2020 May 13. Eur J Med Genet. 2020. PMID: 32413570

3

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family.

Kausar M, Chew EGY, Ullah H, Anees M, Khor CC, Foo JN, Makitie O, Siddiqi S. Kausar M, et al. Front Genet. 2019 Mar 5;10:144. doi: 10.3389/fgene.2019.00144. eCollection 2019. Front Genet. 2019. PMID: 30891060 Free PMC article.

4

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.

Nikopoulos K, Butt GU, Farinelli P, Mudassar M, Domènech-Estévez E, Samara C, Kausar M, Masroor I, Chrast R, Rivolta C, Siddiqi S. Nikopoulos K, et al. Among authors: kausar m. Clin Genet. 2016 Apr;89(4):510-511. doi: 10.1111/cge.12645. Epub 2015 Aug 18. Clin Genet. 2016. PMID: 26285675 No abstract available.

5

Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.

Kausar M, Mäkitie RE, Toiviainen-Salo S, Ignatius J, Anees M, Mäkitie O. Kausar M, et al. Eur J Med Genet. 2019 Nov;62(11):103573. doi: 10.1016/j.ejmg.2018.11.007. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423444

6

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.

Kausar M, Siddiqi S, Yaqoob M, Mansoor S, Makitie O, Mir A, Khor CC, Foo JN, Anees M. Kausar M, et al. J Biomed Sci. 2018 Nov 17;25(1):82. doi: 10.1186/s12929-018-0481-x. J Biomed Sci. 2018. PMID: 30447692 Free PMC article.

7

Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.

Kausar M, Siddiqi S, Yaqoob M, Mansoor S, Makitie O, Mir A, Khor CC, Foo JN, Anees M. Kausar M, et al. J Biomed Sci. 2019 Apr 28;26(1):31. doi: 10.1186/s12929-019-0525-x. J Biomed Sci. 2019. PMID: 31030663 Free PMC article.

8

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.

Kausar M, Ain NU, Hayat F, Fatima H, Azim S, Ullah H, Mushtaq M, Khalid S, Hussain S, Naz S, Janjua J, Amjad SB, Baig RM, Makitie O, Qamar R, Ikegawa S, Gen N, Khor CC, Foo JN, Siddiqi S. Kausar M, et al. BMC Musculoskelet Disord. 2022 Aug 30;23(1):818. doi: 10.1186/s12891-022-05719-6. BMC Musculoskelet Disord. 2022. PMID: 36042462 Free PMC article.

9

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.

Pekkinen M, Terhal PA, Botto LD, Henning P, Mäkitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Mäkitie O. Pekkinen M, et al. Among authors: kausar m. JCI Insight. 2019 Apr 4;4(7):e126180. doi: 10.1172/jci.insight.126180. eCollection 2019 Apr 4. JCI Insight. 2019. PMID: 30779713 Free PMC article.

10

Road toward rapid-molecular point of care test to detect novel SARS-coronavirus 2019 (COVID-19): Review from updated literature.

Ahmad S, Ali N, Kausar M, Misbah H, Wahid A. Ahmad S, et al. Among authors: kausar m. Allergol Immunopathol (Madr). 2020 Sep-Oct;48(5):518-520. doi: 10.1016/j.aller.2020.06.001. Epub 2020 Jul 1. Allergol Immunopathol (Madr). 2020. PMID: 32636083 Free PMC article. Review.

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