Melanie Manning
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Explore the profile of Melanie Manning including associated specialties, affiliations and a list of published articles.
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28
Citations
1458
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Recent Articles
1.
Santoro J, Jafarpour S, Keehan L, Khoshnood M, Kazerooni L, Boyd N, et al.
Sci Rep
. 2024 Dec;
14(1):30865.
PMID: 39730779
Introduction: Down Syndrome Regression Disorder (DSRD) is a neuropsychiatric condition causing insomnia, catatonia, encephalopathy, and obsessive-compulsive behavior in otherwise healthy individuals with Down syndrome (DS). Smaller cohorts have identified heterogenous...
2.
May P, Tabachnick B, Hasken J, Marais A, de Vries M, Kalberg W, et al.
J Pediatr
. 2024 Oct;
:114327.
PMID: 39357817
Objective: To determine if prenatal alcohol exposure (PAE) affected physical and cognitive/behavioral outcomes in apparently typically developing, first-grade children. Study Design: Three groups were compared: children with fetal alcohol spectrum...
3.
Zhu W, Liu W, Yu R, Manning M, Waran Romfh A, Wu J
Stem Cell Res
. 2023 Sep;
72:103204.
PMID: 37734318
Down syndrome (DS) is caused by trisomy of Homo sapiens chromosome 21 (HSA21) and is by far the most common chromosomal disorder accompanied by neurodevelopmental disorders and congenital heart disease....
4.
Santoro J, Spinazzi N, Filipink R, Hayati-Rezvan P, Kammeyer R, Patel L, et al.
Res Sq
. 2023 Feb;
PMID: 36824719
Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics...
5.
Cao Y, Manning M, Pope K, He W, Vetrini F, Siskind C, et al.
Clin Genet
. 2020 Nov;
99(3):477-480.
PMID: 33188530
No abstract available.
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Oren D, Chau P, Manning M, Kwong J, Kaufman B, Maeda K, et al.
Pediatr Transplant
. 2018 Dec;
23(2):e13335.
PMID: 30536852
Danon disease (DD) is an X-linked dominant disorder caused by a mutation in the lysosomal-associated membrane protein-2 (LAMP-2) gene coding for the LAMP-2 protein. We report two cases of successful...
8.
Hollander S, Alsaleh N, Ruzhnikov M, Jensen K, Rosenthal D, Stevenson D, et al.
Am J Med Genet A
. 2017 Apr;
173(6):1687-1689.
PMID: 28407410
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure...
9.
Abell K, May W, May P, Kalberg W, Hoyme H, Robinson L, et al.
Am J Med Genet A
. 2016 Jun;
170(7):1763-71.
PMID: 27253440
Fetal alcohol spectrum disorders (FASD) comprise a range of physical differences and neurologic deficits from prenatal alcohol exposure. Previous studies suggest that relative maxillary growth deficiency can accompany FASD. Using...
10.
Blumenfeld Y, Davis A, Hintz S, Milan K, Messner A, Barth R, et al.
J Ultrasound Med
. 2016 May;
35(6):1353-8.
PMID: 27162279
Binder phenotype, or maxillonasal dysostosis, is a distinctive pattern of facial development characterized by a short nose with a flat nasal bridge, an acute nasolabial angle, a short columella, a...