1 |
Report of a third family with Oliver syndrome.
57
61
|
Salpietro CD...Dallapiccola B
|
16278897 |
2005 |
2 |
Ex Vivo Models to Decipher the Molecular Mechanisms of Genetic Notch Cardiovascular Disorders.
61
|
Ristori T...Sahlgren CM
|
33403934 |
2021 |
3 |
Multiomics Integration in Skin Diseases with Alterations in Notch Signaling Pathway: PlatOMICs Phase 1 Deployment.
61
|
Brandao LAC...Crovella S
|
33546374 |
2021 |
4 |
The prognosis of common arterial trunk from a fetal perspective: a prenatal cohort study and systematic literature review.
61
|
van Nisselrooij AEL...Haak MC
|
33480066 |
2021 |
5 |
Diseases related to Notch glycosylation.
61
|
Matsumoto K...Haltiwanger RS
|
33341260 |
2020 |
6 |
Proliferative Retinopathy in a 13-Year-Old with Adams-Oliver Syndrome.
61
|
Meyer BI...Jain N
|
33323896 |
2020 |
7 |
Aplasia cutis congenita in a CDC42-related developmental phenotype.
61
|
Schnabel F...Zenker M
|
33283961 |
2020 |
8 |
From Skin to Kidneys: Cutaneous Clues of Renal Disease in Children.
61
|
Diplomatico M...Piccolo V
|
33150036 |
2020 |
9 |
Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy.
61
|
Alsulaiman AM...Alsulaiman SM
|
32420513 |
2020 |
10 |
A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.
61
|
Alzahem T...Alsulaiman SM
|
32498638 |
2020 |
11 |
Pleiotropic Role of Notch Signaling in Human Skin Diseases.
61
|
Gratton R...Crovella S
|
32545758 |
2020 |
12 |
Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy.
61
|
Naravane AV...Quiram PA
|
32522703 |
2020 |
13 |
Novel In-Frame Deletion Mutation in NOTCH1 in a Chinese Sporadic Case of Adams-Oliver Syndrome.
61
|
Huang S...Wu Y
|
32129674 |
2020 |
14 |
Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study.
61
|
Whalen M
|
32317338 |
2020 |
15 |
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
61
|
Chapman G...Dunwoodie SL
|
31813956 |
2020 |
16 |
Treatment of a Large Skull Defect and Brain Herniation in a Newborn With Adams-Oliver Syndrome.
61
|
Wehrens KM...Van der Hulst R
|
32211278 |
2020 |
17 |
Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
61
|
Dudoignon B...Baujat G
|
31654484 |
2020 |
18 |
Aplasia cutis congenita: a report of two cases from National Hospital Abuja, Nigeria and review of the literature.
61
|
Mukhtar-Yola M...Audu LI
|
33117485 |
2020 |
19 |
Adams-Oliver syndrome caused by mutations of the EOGT gene.
61
|
Schroder KC...Zenker M
|
31368252 |
2019 |
20 |
Ocular Manifestations of Cutis Marmorata Telangiectatica Congenita.
61
|
Dedania VS...Besirli CG
|
31147303 |
2019 |
21 |
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.
61
|
Digilio MC...Dallapiccola B
|
31111652 |
2019 |
22 |
A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome.
61
|
Yu X...Zhang X
|
31261205 |
2019 |
23 |
Structure and function of extracellular O-GlcNAc.
61
|
Ogawa M...Okajima T
|
30669087 |
2019 |
24 |
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.
61
|
Wang Z...Shixiu Liao
|
30898718 |
2019 |
25 |
Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases.
61
|
Cerikan B...Schiebel E
|
28287327 |
2019 |
26 |
[Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2].
61
|
Zhang K...Liu Y
|
30950023 |
2019 |
27 |
[Adams-Oliver syndrome and cutis marmorata telangiectatica congenita].
61
|
Kojmane W...Atmani S
|
30638685 |
2019 |
28 |
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery.
61
|
Hrishi AP...Sethuraman M
|
29028653 |
2019 |
29 |
Adams-Oliver Syndrome: Limited Expression.
61
|
Kasinathan A...Sankhyan N
|
29948730 |
2019 |
30 |
Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.
61
|
Meester JAN...Loeys BL
|
29767458 |
2019 |
31 |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
61
|
Meester JAN...Wuyts W
|
29924900 |
2018 |
32 |
Congenital diseases caused by defective O-glycosylation of Notch receptors.
61
|
Tashima Y...Okajima T
|
30214079 |
2018 |
33 |
Intracranial Calcifications in Young Children.
61
|
Dugan SL...Bale JF
|
29961505 |
2018 |
34 |
Adams Oliver syndrome with cerebellar cortical dysplasia.
61
|
Tan AP...Mankad K
|
29680918 |
2018 |
35 |
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.
61
|
Pisciotta L...Mancardi MM
|
29631299 |
2018 |
36 |
Importance of complete phenotyping in prenatal whole exome sequencing.
61
|
Aarabi M...Rajkovic A
|
29392406 |
2018 |
37 |
CdGAP/ARHGAP31 is regulated by RSK phosphorylation and binding to 14-3-3β adaptor protein.
61
|
Ben Djoudi Ouadda A...Lamarche-Vane N
|
29545927 |
2018 |
38 |
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
61
|
Nagasaka M...Iijima K
|
28839276 |
2017 |
39 |
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.
61
|
Jones KM...Levy ML
|
28884918 |
2017 |
40 |
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
61
|
Nagasaka M...Iijima K
|
28446798 |
2017 |
41 |
The scaffold protein Ajuba suppresses CdGAP activity in epithelia to maintain stable cell-cell contacts.
61
|
McCormack JJ...Braga VMM
|
28835688 |
2017 |
42 |
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome.
61
|
Sezgin B...Ozmen S
|
28598754 |
2017 |
43 |
Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt.
61
|
Perez-Garcia C...Dominguez MC
|
28706620 |
2017 |
44 |
The developmental biology of genetic Notch disorders.
61
|
Masek J...Andersson ER
|
28512196 |
2017 |
45 |
EOGT and O-GlcNAc on secreted and membrane proteins.
61
|
Varshney S...Stanley P
|
28408480 |
2017 |
46 |
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
61
|
Hassed S...Palmer S
|
28160419 |
2017 |
47 |
A Case of Adams-Oliver Syndrome.
61
|
Saeidi M...Ehsanipoor F
|
29387678 |
2017 |
48 |
Adams-Oliver syndrome associated with gastrointestinal malformations.
61
|
van Geyzel L...Duffy D
|
27888223 |
2016 |
49 |
Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator.
61
|
Cerikan B...Schiebel E
|
27693507 |
2016 |
50 |
[Aplasia cutis congenita: Update and management].
61
|
Belkhou A...Guerreschi P
|
27503278 |
2016 |