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About 198 results

ALLMedicine™ Adams-Oliver Syndrome Center

Research & Reviews  99 results

Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7939203
Medicine Tao Z, Bu S et. al.

Mar 3rd, 2021 - Familial exudative vitreoretinopathy (FEVR) is an inherited disorder, which is mostly reported to be associated with the mutation of genes involved in the Wnt signaling pathway related to β-catenin. To the best of our knowledge, the involvement of...

Proliferative Retinopathy in a 13-Year-Old with Adams-Oliver Syndrome.
https://doi.org/10.1097/ICB.0000000000001073
Retinal Cases & Brief Reports; Meyer BI, Williams PJ et. al.

Dec 16th, 2020 - Adams-Oliver syndrome is a rare, inherited disorder of embryologic development that affects multiple systems. Ocular manifestations have been poorly characterized due to the low prevalence and high mortality of the disease when it is associated wi...

Aplasia cutis congenita in a CDC42-related developmental phenotype.
https://doi.org/10.1002/ajmg.a.62009
American Journal of Medical Genetics. Part A; Schnabel F, Kamphausen SB et. al.

Dec 7th, 2020 - Cell division cycle 42 (CDC42) is a small Rho GTPase, which serves as a fundamental intracellular signal node regulating actin cytoskeletal dynamics and several other integral cellular processes. CDC42-associated disorders encompass a broad clinic...

Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy.
https://doi.org/10.1016/j.jaapos.2020.03.007
Journal of AAPOS : the Official Publication of the Americ... Naravane AV, Belin PJ et. al.

Jun 5th, 2020 - Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita of the scalp and transverse limb defects. Other clinical features reported in association with AOS include cardiac malformations, cutis marmorata telang...

A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.
https://doi.org/10.1080/13816810.2020.1776339
Ophthalmic Genetics; Alzahem T, Alsalamah AK et. al.

Jun 4th, 2020 - Adams-Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along with variable involvement of the central nervous system, eye...

see more →

Clinicaltrials.gov  99 results

Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7939203
Medicine Tao Z, Bu S et. al.

Mar 3rd, 2021 - Familial exudative vitreoretinopathy (FEVR) is an inherited disorder, which is mostly reported to be associated with the mutation of genes involved in the Wnt signaling pathway related to β-catenin. To the best of our knowledge, the involvement of...

Proliferative Retinopathy in a 13-Year-Old with Adams-Oliver Syndrome.
https://doi.org/10.1097/ICB.0000000000001073
Retinal Cases & Brief Reports; Meyer BI, Williams PJ et. al.

Dec 16th, 2020 - Adams-Oliver syndrome is a rare, inherited disorder of embryologic development that affects multiple systems. Ocular manifestations have been poorly characterized due to the low prevalence and high mortality of the disease when it is associated wi...

Aplasia cutis congenita in a CDC42-related developmental phenotype.
https://doi.org/10.1002/ajmg.a.62009
American Journal of Medical Genetics. Part A; Schnabel F, Kamphausen SB et. al.

Dec 7th, 2020 - Cell division cycle 42 (CDC42) is a small Rho GTPase, which serves as a fundamental intracellular signal node regulating actin cytoskeletal dynamics and several other integral cellular processes. CDC42-associated disorders encompass a broad clinic...

Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy.
https://doi.org/10.1016/j.jaapos.2020.03.007
Journal of AAPOS : the Official Publication of the Americ... Naravane AV, Belin PJ et. al.

Jun 5th, 2020 - Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita of the scalp and transverse limb defects. Other clinical features reported in association with AOS include cardiac malformations, cutis marmorata telang...

A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.
https://doi.org/10.1080/13816810.2020.1776339
Ophthalmic Genetics; Alzahem T, Alsalamah AK et. al.

Jun 4th, 2020 - Adams-Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along with variable involvement of the central nervous system, eye...

see more →