Muhammad Nadeem Anjum
Overview
Explore the profile of Muhammad Nadeem Anjum including associated specialties, affiliations and a list of published articles.
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16
Citations
40
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Recent Articles
1.
Aughey G, Cali E, Maroofian R, Zaki M, Pagnamenta A, Ali Z, et al.
Brain
. 2024 Dec;
PMID: 39692517
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However,...
2.
Rahman F, Marsili L, Pasquetti D, Rad A, Anjum M, Oprea G, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39668186
Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details...
3.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, et al.
Genet Med
. 2024 Sep;
:101251.
PMID: 39275948
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar...
4.
Aughey G, Cali E, Maroofian R, Zaki M, Pagnamenta A, Rahman F, et al.
medRxiv
. 2024 May;
PMID: 38746364
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However,...
5.
Cheema H, Waheed N, Saeed A, Anjum M, Fayyaz Z, Ijaz S
J Pak Med Assoc
. 2023 Sep;
73(8):1610-1621.
PMID: 37697751
Objectives: To report the mutational landscape of a clinically diagnosed cohort of paediatric patients with cholestasis liver diseases. Methods: The retrospective study was conducted at the University of Child Health...
6.
Cheema H, Fayyaz Z, Saeed A, Anjum M, Ijaz S, Alvi M, et al.
Turk J Gastroenterol
. 2023 Aug;
34(10):1088-1098.
PMID: 37603299
Background/aims: The purpose of this study was to identify the spectrum and frequency of pathogenic variants as well as the clinical and genetic insight of hereditary chronic pancreatitis in Pakistani...
7.
Zapater L, Lewis S, Gutierrez R, Yamada M, Rodriguez-Fos E, Planas-Felix M, et al.
bioRxiv
. 2023 May;
PMID: 37163102
DNA transposable elements and transposase-derived genes are present in most living organisms, including vertebrates, but their function is largely unknown. PiggyBac Transposable Element Derived 5 (PGBD5) is an evolutionarily conserved...
8.
Aftab S, Khan S, Malik M, Imran A, Anjum M, Saeed A, et al.
J Pediatr Endocrinol Metab
. 2022 Dec;
36(2):152-157.
PMID: 36524979
Objectives: Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of . It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic...
9.
Aftab S, Shaheen T, Asif R, Anjum M, Saeed A, Manzoor J, et al.
J Pediatr Endocrinol Metab
. 2022 Sep;
35(11):1429-1432.
PMID: 36106528
Objectives: Rabson Mendenhall syndrome (RMS) is a rare form of insulin resistance syndrome caused by insulin receptor mutation. In term of severity, it lies at an intermediate point on spectrum...
10.
Cheema H, Waheed N, Saeed A, Fayyaz Z, Anjum M, Alvi M, et al.
J Pak Med Assoc
. 2022 Jan;
71(10):2350-2354.
PMID: 34974569
Objective: To explore the spectrum of presentation, underlying monogenetic defects and outcome in very early onset inflammatory bowel disease (VEO-IBD). Method: The prospective, observational study was conducted at the Children's...