| 1 |
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. ( 30898718
)
|
Wang Z...ShixiuLiao
|
2019 |
| 2 |
Adams-Oliver Syndrome: Limited Expression. ( 29948730
)
|
Kasinathan A....Sankhyan N.
|
2018 |
| 3 |
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. ( 29631299
)
|
Pisciotta L....Mancardi M.M.
|
2018 |
| 4 |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. ( 29924900
)
|
Meester J.A.N....Wuyts W.
|
2018 |
| 5 |
Adams Oliver syndrome with cerebellar cortical dysplasia. ( 29680918
)
|
Tan A.P....Mankad K.
|
2018 |
| 6 |
Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. ( 28706620
)
|
PAcrez-GarcA-a C....DomA-nguez M.C.
|
2017 |
| 7 |
A Case of Adams-Oliver Syndrome. ( 29387678
)
|
Saeidi M....Ehsanipoor F.
|
2017 |
| 8 |
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery. ( 29028653
)
|
|
2017 |
| 9 |
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. ( 28598754
)
|
Sezgin B....Ozmen S.
|
2017 |
| 10 |
Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases. ( 28287327
)
|
Cerikan B....Schiebel E.
|
2017 |
| 11 |
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28839276
)
|
Nagasaka M....Iijima K.
|
2017 |
| 12 |
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. ( 28884918
)
|
Jones K.M....Levy M.L.
|
2017 |
| 13 |
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. ( 28160419
)
|
Hassed S....Palmer S.
|
2017 |
| 14 |
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28446798
)
|
Nagasaka M....Iijima K.
|
2017 |
| 15 |
Adams-Oliver syndrome associated with gastrointestinal malformations. ( 27888223
)
|
van Geyzel L....Duffy D.
|
2016 |
| 16 |
Adams-Oliver Syndrome: A Case with Full Expression. ( 27433307
)
|
Dehdashtian A....Dehdashtian M.
|
2016 |
| 17 |
Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome. ( 27178874
)
|
Renfree K.J....Dell P.C.
|
2016 |
| 18 |
Letter regarding "Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome". ( 27402369
)
|
Southgate L.
|
2016 |
| 19 |
Multiple tics in a patient with Adams-Oliver syndrome. ( 25716509
)
|
Hassiem F....Cavanna A.E.
|
2015 |
| 20 |
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. ( 26419402
)
|
Aminkeng F.
|
2015 |
| 21 |
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. ( 25963545
)
|
Southgate L....Trembath R.C.
|
2015 |
| 22 |
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 25824905
)
|
Sukalo M....Zenker M.
|
2015 |
| 23 |
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 26457590
)
|
Sukalo M....Zenker M.
|
2015 |
| 24 |
Cardiovascular malformations in Adams-Oliver syndrome. ( 25885069
)
|
Digilio M.C....Dallapiccola B.
|
2015 |
| 25 |
Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome. ( 25488668
)
|
Ogawa M....Okajima T.
|
2015 |
| 26 |
|
Madan A....Garg V.K.
|
2015 |
| 27 |
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. ( 26299364
)
|
Meester J.A....Wuyts W.
|
2015 |
| 28 |
Mutations in NOTCH1 cause Adams-Oliver syndrome. ( 25132448
)
|
Stittrich A.B....Patel M.S.
|
2014 |
| 29 |
|
Iftikhar N....Butt U.A.
|
2014 |
| 30 |
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. ( 25091416
)
|
Lehman A....Patel M.
|
2014 |
| 31 |
Adams-Oliver Syndrome: A Case Report. ( 25556654
)
|
Frantz J.A....Siementcoski G.A.
|
2014 |
| 32 |
Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect. ( 24515817
)
|
Lorenz L....Poets C.
|
2014 |
| 33 |
Severe phenotype in two half-sibs with Adams Oliver syndrome. ( 24862819
)
|
Sevilla-Montoya R....Aguinaga-RA-os D.M.
|
2014 |
| 34 |
Adams-Oliver syndrome in a newborn infant. ( 24697559
)
|
Zakanj Z....Ozanic Bulic S.
|
2014 |
| 35 |
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619
)
|
Isrie M....Devriendt K.
|
2014 |
| 36 |
|
Kutlubay Z....Pehlivan O.
|
2013 |
| 37 |
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. ( 23860037
)
|
Cohen I....Birk O.S.
|
2013 |
| 38 |
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. ( 24505229
)
|
D'Amico A....Brunetti A.
|
2013 |
| 39 |
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. ( 23522784
)
|
Shaheen R....Alkuraya F.S.
|
2013 |
| 40 |
Adams-Oliver syndrome: new evidence in variable expressivity? ( 24372423
)
|
Girish M....Bhattad S.
|
2013 |
| 41 |
Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. ( 23910800
)
|
Atasoy H.I....Cine N.
|
2013 |
| 42 |
Parental allografts in the management of Adams-Oliver syndrome. ( 23740178
)
|
Henderson T.O....Wall S.A.
|
2013 |
| 43 |
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. ( 23613382
)
|
Algaze C....Selamet Tierney E.S.
|
2013 |
| 44 |
Dilemmas and challenges in the management of a neonate with Adams-Oliver syndrome with infected giant aplasia cutis lesion and exsanguination: a case-based update. ( 23274636
)
|
Udayakumaran S....Panikar D.
|
2013 |
| 45 |
Peripheral ischemic retinopathy in Adams-Oliver syndrome. ( 22893088
)
|
Peralta-Calvo J....Abelairas J.
|
2012 |
| 46 |
Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects. ( 22514587
)
|
Bakry O....El Shafey E.N.
|
2012 |
| 47 |
Adams-Oliver syndrome and familial MYH9 mutation. ( 22631568
)
|
Uyeda T....Kunishima S.
|
2012 |
| 48 |
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. ( 22768669
)
|
Nwosu B.U....Rogol A.D.
|
2012 |
| 49 |
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? ( 22307742
)
|
Silva G....Silva E.S.
|
2012 |
| 50 |
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. ( 22883147
)
|
Hassed S.J....Gaffney P.M.
|
2012 |
Rare neurological diseases
