Philip F Giampietro
Overview
Explore the profile of Philip F Giampietro including associated specialties, affiliations and a list of published articles.
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92
Citations
1687
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Recent Articles
1.
Nematollahi S, Rampakakis E, Amara M, Hamdy R, Rauch F, Hyer L, et al.
Qual Life Res
. 2024 Oct;
34(1):247-260.
PMID: 39436578
Purpose: Arthrogryposis multiplex congenita (AMC) describes a heterogeneous group of rare congenital conditions. Health-related quality of life (HRQL) may be reduced in AMC due to broadly heterogeneous physical impairments and...
2.
Petit F, Longoni M, Wells J, Maser R, Bogenschutz E, Dysart M, et al.
Am J Hum Genet
. 2023 Sep;
110(10):1787-1803.
PMID: 37751738
Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We describe eight unrelated families with an X-linked condition characterized...
3.
Rebello D, Wohler E, Erfani V, Li G, Aguilera A, Santiago-Cornier A, et al.
Hum Mol Genet
. 2023 Jul;
32(19):2913-2928.
PMID: 37462524
Human vertebral malformations (VMs) have an estimated incidence of 1/2000 and are associated with significant health problems including congenital scoliosis (CS) and recurrent organ system malformation syndromes such as VACTERL...
4.
Alankarage D, Enriquez A, Steiner R, Raggio C, Higgins M, Milnes D, et al.
Differentiation
. 2022 Oct;
128:1-12.
PMID: 36194927
Myhre syndrome is a connective tissue disorder characterized by congenital cardiovascular, craniofacial, respiratory, skeletal, and cutaneous anomalies as well as intellectual disability and progressive fibrosis. It is caused by germline...
5.
Li G, Strong A, Wang H, Kim J, Watson D, Zhao S, et al.
Am J Med Genet A
. 2022 Sep;
188(12):3469-3481.
PMID: 36161696
TBX6 encodes transcription-factor box 6, a transcription factor critical to paraxial mesoderm segmentation and somitogenesis during embryonic development. TBX6 haploinsufficiency is believed to drive the skeletal and kidney phenotypes associated...
6.
Giampietro P, Hadley-Miller N, Raggio C
Genes (Basel)
. 2022 Jul;
13(7).
PMID: 35885977
In this Special Issue of entitled "Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis", evidence is presented which suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping,...
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