Aline L Petrin
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Explore the profile of Aline L Petrin including associated specialties, affiliations and a list of published articles.
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7
Citations
123
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Recent Articles
1.
Petrin A, Machado-Paula L, Hinkle A, Hovey L, Awotoye W, Chimenti M, et al.
Cleft Palate Craniofac J
. 2025 Jan;
:10556656241306202.
PMID: 39819101
Objective: Oculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anomalies. We present genetic findings...
2.
Awotoye W, Machado-Paula L, Hovey L, Keen H, Chimenti M, Darbro B, et al.
medRxiv
. 2024 Nov;
PMID: 39606391
Background: Disturbances in the intricate processes that control craniofacial morphogenesis can result in birth defects, most common of which are orofacial clefts (OFCs). Nonsyndromic cleft lip (nsCL), one of the...
3.
Seaberg A, Awotoye W, Qian F, Machado-Paula L, Dunlay L, Butali A, et al.
Cleft Palate Craniofac J
. 2024 Aug;
:10556656241269495.
PMID: 39109995
Objective: Van der Woude Syndrome (VWS) presents with combinations of lip pits (LP) and cleft lip and/or cleft palate (CL/P, CPO). VWS phenotypic heterogeneity even amongst relatives, suggests that epigenetic...
4.
Lansdon L, Darbro B, Petrin A, Hulstrand A, Standley J, Brouillette R, et al.
Genetics
. 2017 Nov;
208(1):283-296.
PMID: 29162626
Orofacial clefts are one of the most common birth defects, affecting 1-2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to...
5.
Butali A, Suzuki S, Cooper M, Mansilla A, Cuenco K, Leslie E, et al.
Am J Med Genet A
. 2013 Mar;
161A(5):965-72.
PMID: 23463464
Following recent genome wide association studies (GWAS), significant genetic associations have been identified for several genes with nonsyndromic cleft lip with or without cleft palate (CL(P)). To replicate two of...
6.
Saadi I, Alkuraya F, Gisselbrecht S, Goessling W, Cavallesco R, Turbe-Doan A, et al.
Am J Hum Genet
. 2011 Jun;
89(1):44-55.
PMID: 21703590
Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental...
7.
Petrin A, Giacheti C, Maximino L, Abramides D, Zanchetta S, Rossi N, et al.
Am J Med Genet A
. 2010 Nov;
152A(12):3164-72.
PMID: 21108403
Speech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition,...
8.
Petrin A, Daack-Hirsch S, LHeureux J, Murray J
Cleft Palate Craniofac J
. 2010 May;
48(2):222-30.
PMID: 20500065
Objective: The objective of this study was to use array comparative genomic hybridization to detect causal microdeletions in samples of subjects with cleft lip and palate. Subjects: We analyzed DNA...