Ferdy K Cayami
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Explore the profile of Ferdy K Cayami including associated specialties, affiliations and a list of published articles.
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11
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192
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Recent Articles
1.
Cayami F, Claeys L, de Ruiter R, Smilde B, Wisse L, Bogunovic N, et al.
Sci Rep
. 2022 Aug;
12(1):14686.
PMID: 36038602
Inherited bone disorders account for about 10% of documented Mendelian disorders and are associated with high financial burden. Their study requires osteoblasts which play a critical role in regulating the...
2.
Pelletier F, Perrier S, Cayami F, Mirchi A, Saikali S, Tran L, et al.
J Clin Endocrinol Metab
. 2020 Oct;
106(2):e660-e674.
PMID: 33005949
Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The...
3.
Gauquelin L, Cayami F, Sztriha L, Yoon G, Tran L, Guerrero K, et al.
Neurol Genet
. 2020 Feb;
5(6):e369.
PMID: 32042905
Objective: To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic pathogenic variants. Methods: A cross-sectional observational study involving 25 centers worldwide was...
4.
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
Cayami F, Maugeri A, Treurniet S, Setijowati E, Teunissen B, Eekhoff E, et al.
Mol Genet Genomic Med
. 2019 Jun;
7(8):e823.
PMID: 31207160
Background: Osteogenesis imperfecta (OI) is a clinically heterogeneous disease characterized by extreme skeletal fragility. It is caused by mutations in genes frequently affecting collagen biosynthesis. Mutations in CREB3L1 encoding the...
5.
Cayami F, Bugiani M, Pouwels P, Bernard G, van der Knaap M, Wolf N
Neuropediatrics
. 2017 Nov;
49(2):112-117.
PMID: 29179231
4H leukodystrophy is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. With its variability in clinical symptoms, application of pattern recognition to identify specific magnetic resonance imaging (MRI) features proved useful...
6.
Miyake N, Wolf N, Cayami F, Crawford J, Bley A, Bulas D, et al.
Neurogenetics
. 2017 Aug;
18(4):185-194.
PMID: 28842795
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in...
7.
Wahyuningsih H, Cayami F, Bahrudin U, A Sobirin M, Ep Mundhofir F, Faradz S, et al.
Yonago Acta Med
. 2017 Mar;
60(1):24-30.
PMID: 28331418
Background: High resolution melting (HRM) is a post-PCR technique for variant screening and genotyping based on the different melting points of DNA fragments. The advantages of this technique are that...
8.
La Piana R, Cayami F, Tran L, Guerrero K, Van Spaendonk R, Ounap K, et al.
Neurology
. 2016 Apr;
86(17):1622-6.
PMID: 27029625
Objective: To report atypical MRI patterns associated with POLR3A and POLR3B mutations. Methods: This was a multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations...
9.
Micha D, Guo D, Hilhorst-Hofstee Y, van Kooten F, Atmaja D, Overwater E, et al.
Hum Mutat
. 2015 Aug;
36(12):1145-9.
PMID: 26247899
We report three families with arterial aneurysms and dissections in which variants predicted to be pathogenic were identified in SMAD2. Moreover, one variant occurred de novo in a proband with...
10.
Cayami F, La Piana R, van Spaendonk R, Nickel M, Bley A, Guerrero K, et al.
Neuropediatrics
. 2015 May;
46(3):221-8.
PMID: 26011300
Objective: This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. Methods And Results:...