Al-Aama JY - Search Results

1

Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.

Serafi R, Jelani M, Almramhi MM, Mohamoud HSA, Ahmed S, Alkhiary YM, Zhang J, Yang H, Al-Aama JY. Serafi R, et al. Ann Hum Genet. 2015 Sep;79(5):350-356. doi: 10.1111/ahg.12123. Epub 2015 Jun 23. Ann Hum Genet. 2015. PMID: 26102279

2

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.

Jelani M, Ahmed S, Almramhi MM, Mohamoud HS, Bakur K, Anshasi W, Wang J, Al-Aama JY. Jelani M, et al. Eur J Med Genet. 2015 Apr;58(4):216-21. doi: 10.1016/j.ejmg.2015.02.002. Epub 2015 Feb 23. Eur J Med Genet. 2015. PMID: 25721873

3

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.

Jelani M, Kang C, Mohamoud HS, Al-Rehaili R, Almramhi MM, Serafi R, Yang H, Al-Aama JY, Naeem M, Alkhiary YM. Jelani M, et al. Arch Oral Biol. 2016 Jul;67:28-33. doi: 10.1016/j.archoralbio.2016.03.012. Epub 2016 Mar 23. Arch Oral Biol. 2016. PMID: 27019138

4

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Alkhiary YM, Jelani M, Almramhi MM, Mohamoud HS, Al-Rehaili R, Al-Zahrani HS, Serafi R, Yang H, Al-Aama JY. Alkhiary YM, et al. Saudi J Biol Sci. 2016 Sep;23(5):571-6. doi: 10.1016/j.sjbs.2015.06.007. Epub 2015 Jun 16. Saudi J Biol Sci. 2016. PMID: 27579005 Free PMC article.

5

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.

Ahmed S, Jelani M, Alrayes N, Mohamoud HS, Almramhi MM, Anshasi W, Ahmed NA, Wang J, Nasir J, Al-Aama JY. Ahmed S, et al. J Neurol Sci. 2015;353(1-2):149-54. doi: 10.1016/j.jns.2015.04.038. Epub 2015 May 1. J Neurol Sci. 2015. PMID: 25956234

6

The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.

Alrayes N, Mohamoud HS, Ahmed S, Almramhi MM, Shuaib TM, Wang J, Al-Aama JY, Everett K, Nasir J, Jelani M. Alrayes N, et al. J Neurol Sci. 2016 Apr 15;363:240-4. doi: 10.1016/j.jns.2016.02.063. Epub 2016 Mar 2. J Neurol Sci. 2016. PMID: 27000257

7

Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.

Gaboon NE, Jelani M, Almramhi MM, Mohamoud HS, Al-Aama JY. Gaboon NE, et al. J Dermatol. 2015 Jul;42(7):706-9. doi: 10.1111/1346-8138.12861. Epub 2015 Apr 9. J Dermatol. 2015. PMID: 25855245

8

Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.

Al-Zahrani HS, Al-Tala S, Mohamoud HSA, Al-Shehri BA, Al-Fadhel S, Al-Qurashi A, Al-Bishri A, Al-Aama JY, Kang C, Betz RC, Jelani M. Al-Zahrani HS, et al. Congenit Anom (Kyoto). 2019 May;59(3):99-101. doi: 10.1111/cga.12294. Epub 2018 Jul 6. Congenit Anom (Kyoto). 2019. PMID: 29900604 No abstract available.

9

Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.

Al-Aama JY, Al-Zahrani HS, Jelani M, Sabir HS, Al-Saeedi SA, Ahmed S. Al-Aama JY, et al. Congenit Anom (Kyoto). 2018 Jan;58(1):39-40. doi: 10.1111/cga.12217. Epub 2017 Mar 29. Congenit Anom (Kyoto). 2018. PMID: 28220546 No abstract available.

10

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.

Mohamoud HS, Ahmed S, Jelani M, Alrayes N, Childs K, Vadgama N, Almramhi MM, Al-Aama JY, Goodbourn S, Nasir J. Mohamoud HS, et al. Sci Rep. 2018 Feb 1;8(1):2053. doi: 10.1038/s41598-018-20658-w. Sci Rep. 2018. PMID: 29391579 Free PMC article.

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