Mumtaz S - Search Results

1

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

Mumtaz S, Riaz HF, Touseef M, Basit S, Faiyaz Ul Haque M, Malik S. Mumtaz S, et al. Pak J Med Sci. 2015 Nov-Dec;31(6):1542-4. doi: 10.12669/pjms.316.8115. Pak J Med Sci. 2015. PMID: 26870132 Free PMC article.

2

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.

Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH. Malik S, et al. Among authors: mumtaz s. Am J Hum Genet. 2014 Dec 4;95(6):649-59. doi: 10.1016/j.ajhg.2014.10.012. Epub 2014 Nov 13. Am J Hum Genet. 2014. PMID: 25466284 Free PMC article.

3

Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects.

Lal K, Mumtaz S, Rehman AU, Bibi M, Pervin Z, Malik S. Lal K, et al. Among authors: mumtaz s. Pak J Med Sci. 2014 Nov-Dec;30(6):1428-31. doi: 10.12669/pjms.306.5464. Pak J Med Sci. 2014. PMID: 25674153 Free PMC article.

4

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S. Mumtaz S, et al. Am J Med Genet A. 2015 Dec;167A(12):3148-52. doi: 10.1002/ajmg.a.37299. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333564

5

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

Mumtaz S, Yıldız E, Lal K, Tolun A, Malik S. Mumtaz S, et al. Eur J Med Genet. 2017 May;60(5):268-274. doi: 10.1016/j.ejmg.2017.03.004. Epub 2017 Mar 14. Eur J Med Genet. 2017. PMID: 28315472

6

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Among authors: mumtaz s. Am J Med Genet A. 2017 Sep;173(9):2494-2499. doi: 10.1002/ajmg.a.38332. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636205

7

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

Yıldız Bölükbaşı E, Mumtaz S, Afzal M, Woehlbier U, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Among authors: mumtaz s. J Med Genet. 2018 Mar;55(3):189-197. doi: 10.1136/jmedgenet-2017-104758. Epub 2017 Nov 10. J Med Genet. 2018. PMID: 29127258

8

Novel EDAR mutation in tooth agenesis and variable associated features.

Mumtaz S, Nalbant G, Yıldız Bölükbaşı E, Huma Z, Ahmad N, Tolun A, Malik S. Mumtaz S, et al. Eur J Med Genet. 2020 Sep;63(9):103926. doi: 10.1016/j.ejmg.2020.103926. Epub 2020 Apr 20. Eur J Med Genet. 2020. PMID: 32325225

9

Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.

Bilches Medinas D, Malik S, Yıldız-Bölükbaşı E, Borgonovo J, Saaranen MJ, Urra H, Pulgar E, Afzal M, Contreras D, Wright MT, Bodaleo F, Quiroz G, Rozas P, Mumtaz S, Díaz R, Rozas C, Cabral-Miranda F, Piña R, Valenzuela V, Uyan O, Reardon C, Woehlbier U, Brown RH, Sena-Esteves M, Gonzalez-Billault C, Morales B, Plate L, Ruddock LW, Concha ML, Hetz C, Tolun A. Bilches Medinas D, et al. Among authors: mumtaz s. EMBO J. 2022 Dec 17;41(2):e105531. doi: 10.15252/embj.2020105531. Epub 2021 Dec 14. EMBO J. 2022. PMID: 34904718 Free PMC article.

10

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.

Koprulu M, Shabbir RMK, Mumtaz S, Tolun A, Malik S. Koprulu M, et al. Among authors: mumtaz s. Yale J Biol Med. 2023 Sep 29;96(3):367-382. doi: 10.59249/RLAU6003. eCollection 2023 Sep. Yale J Biol Med. 2023. PMID: 37780995 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

368 results

Search Page

Filters