|
1
|
Mocanu H, Mocanu AI, Dragoi AM and
Radulescu M: Long-term histological results of ossicular chain
reconstruction using bioceramic implants. Exp Ther Med.
21(260)2021.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Mocanu H: The role of perinatal hearing
screening in the normal development of the infant's language. In:
Debating Globalization. Identity, Nation and Dialogue. 4th edition.
Boldea I and Sigmirean C (eds). Arhipeleag XXI Press, Tirgu Mures,
pp562-569, 2017.
|
|
3
|
Mocanu H: The economic impact of early
diagnosis of congenital hearing loss. In: Debating Globalization.
Identity, Nation and Dialogue. 4th edition. Boldea I and Sigmirean
C (eds). Arhipeleag XXI Press, Tirgu Mures, pp556-561, 2017.
|
|
4
|
Palmer CG, Lueddeke JT and Zhou J: Factors
influencing parental decision about genetics evaluation for their
deaf or hard-of-hearing child. Genet Med. 11:248–255.
2009.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Smith R, Hildebrand M and Van Camp G:
Deafness and Hereditary Deafness Overview. 2010. Available from:
http://www.ncbi.nlm.nih.gov/pubmed/20301607. Accessed
at February 16, 2022.
|
|
6
|
Neagu AC, Budișteanu M, Gheorghe DC,
Mocanu AI and Mocanu H: rare gene mutations in romanian hypoacusis
patients: Case series and a review of the literature. Medicina
(Kaunas). 58(1252)2022.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Németh AH, Kwasniewska AC, Lise S, Parolin
Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D,
Zameel Cader M, et al: Next generation sequencing for molecular
diagnosis of neurological disorders using ataxias as a model.
Brain. 136:3106–3118. 2013.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Pichardo MXA, Bernate F, Trujillo-Ángel
JF, Alba MCS, Lubo MP, Perdigon NA, Ramirez LB, Jimenez D, Escobar
SA, Gonzalez IF and Regalado LGC: Radio-Tartaglia Syndrome: A rare
cause of delay in neurodevelopment - A case report. Iran J
Neonatol. 15:60–64. 2024.
|
|
9
|
National Center for Biotechnology
Information. Radio-Tartaglia Syndrome (Concept ID: C5543339) -
MedGen - NCBI. Available from: https://www.ncbi.nlm.nih.gov/medgen/1778557.
|
|
10
|
Jordan VK, Zaveri HP and Scott DA: 1p36
deletion syndrome: An update. Appl Clin Genet. 8:189–200.
2015.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Online Mendelian Inheritance in Man,
OMIM®. Johns Hopkins University, Baltimore, MD, 2021. Available
from: https://omim.org/.
|
|
12
|
Radio FC, Pang K, Ciolfi A, Levy MA,
Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E,
Jackson A, et al: SPEN haploinsufficiency causes a
neurodevelopmental disorder overlapping proximal 1p36 deletion
syndrome with an episignature of X chromosomes in females. Am J Hum
Genet. 108:502–516. 2021.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Mocanu H and Oncioiu I: The influence of
clinical and environmental risk factors in the etiology of
congenital sensorineural hearing loss in the Romanian population.
Iran J Public Health. 48:2301–2303. 2019.PubMed/NCBI
|
|
14
|
Ma M, Moulton MJ, Lu S and Bellen HJ:
‘Fly-ing’ from rare to common neurodegenerative disease mechanisms.
Trends Genet. 38:972–984. 2022.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Shimada S, Shimojima K, Okamoto N, Sangu
N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno
S, et al: Microarray analysis of 50 patients reveals the critical
chromosomal regions responsible for 1p36 deletion syndrome-related
complications. Brain Dev. 37:515–526. 2015.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Battaglia A, Hoyme HE, Dallapiccola B,
Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C,
Williams CA, Brailey LL, et al: Further delineation of deletion
1p36 syndrome in 60 patients: A recognizable phenotype and common
cause of developmental delay and mental retardation. Pediatrics.
121:404–410. 2008.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Radio-Tartaglia Syndrome genetic and rare
diseases information center. Department of Health and Human
Services. Available from: https://www.ncbi.nlm.nih.gov/medgen/1778557. Accessed
at: February 20, 2024.
|
|
18
|
Sobreira N, Schiettecatte F, Valle D and
Hamosh A: GeneMatcher: A matching tool for connecting investigators
with an interest in the same gene. Hum Mutat. 36:928–930.
2015.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Firth HV, Richards SM, Bevan AP, Clayton
S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM and Carter
NP: DECIPHER: Database of chromosomal imbalance and phenotype in
humans using ensembl resources. Am J Hum Genet. 84:524–533.
2009.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Pober BR: Williams-Beuren syndrome. N Engl
J Med. 362:239–252. 2010.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Williams Syndrome Genetic and Rare
Diseases Information Center. Department of Health and Human
Services. Available from: https://www.ncbi.nlm.nih.gov/medgen/?term=Williams+syndrome.
Accessed at: July 15, 2024.
|
|
22
|
Stanley TL, Leong A and Pober BR: Growth,
body composition, and endocrine issues in Williams syndrome. Curr
Opin Endocrinol Diabetes Obes. 28:64–74. 2021.PubMed/NCBI View Article : Google Scholar
|
