scholarly article | Q13442814 |
review article | Q7318358 |
P50 | author | Martin Zenker | Q71356275 |
P2093 | author name string | Richard C Trembath | |
Wim Wuyts | |||
Diana Johnson | |||
Margo Whiteford | |||
Wayne Lam | |||
Katie M G Snape | |||
Deborah Ruddy | |||
P2860 | cites work | Clinical and molecular analysis of nine families with Adams-Oliver syndrome | Q28207518 |
Autosomal dominant inheritance of scalp defects with ectrodactyly | Q28245210 | ||
Adams-Oliver syndrome revisited | Q28248021 | ||
The effect of hypoxia in development | Q28255004 | ||
Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis | Q28255664 | ||
Hypoxia induces cardiac malformations via A1 adenosine receptor activation in chicken embryos | Q28264264 | ||
Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant | Q28265149 | ||
Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes | Q28294970 | ||
Recognition of thalidomide defects | Q33594538 | ||
The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases | Q33650158 | ||
Teratogen-induced limb defects | Q34926892 | ||
Aplasia cutis cerebri with partial acrania--total reconstruction in a severe case and review of the literature | Q35069659 | ||
Congenital scalp defects: Adams-Oliver syndrome. A case report and review of the literature | Q37067577 | ||
Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases | Q37879832 | ||
Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia | Q39366248 | ||
Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome | Q39514832 | ||
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature | Q39559755 | ||
Aplasia cutis congenita: a clinical review and proposal for classification | Q39730288 | ||
Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations | Q39799279 | ||
Aplasia cutis congenita: a report of 12 new families and review of the literature | Q39835774 | ||
Congenital scalp defect with distal limb reduction anomalies | Q40117330 | ||
Adams-Oliver syndrome: a case with juvenile chronic myelogenous leukemia and chylothorax | Q40806373 | ||
Acrania: a manifestation of the Adams-Oliver syndrome | Q41105946 | ||
Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasia | Q41653944 | ||
Adams-Oliver syndrome: further evidence of an autosomal recessive variant | Q41918449 | ||
Adams Oliver syndrome: a family with extreme variability in clinical expression | Q41929280 | ||
Near fatal haemorrhage from the superior sagittal sinus in Adams-Oliver syndrome | Q42963037 | ||
Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritance | Q44489085 | ||
Congenital heart defect in a Japanese girl with Adams-Oliver syndrome: one of the most important complications | Q44777690 | ||
Adams-Oliver syndrome: aplasia cutis congenita, terminal transverse limb defects and cutis marmorata telangiectatica congenita | Q48217286 | ||
Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. | Q48341793 | ||
Adams-Oliver syndrome with unusual central nervous system alterations | Q48515490 | ||
Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report. | Q51812078 | ||
Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. | Q51965257 | ||
A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: further evidence of vascular pathology? | Q52087500 | ||
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome? | Q52521646 | ||
Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome? | Q52541357 | ||
Limb deficiencies in newborn infants. | Q52544198 | ||
Autosomal recessive type of Adams-Oliver syndrome: prenatal diagnosis. | Q52954615 | ||
Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. | Q54572295 | ||
Adams-Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism? | Q57199424 | ||
The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs | Q57952015 | ||
P433 | issue | 8 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 1860-81 | |
P577 | publication date | 2009-08-01 | |
P1433 | published in | American Journal of Medical Genetics Part A | Q15755121 |
P1476 | title | The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects | |
P478 | volume | 149A |
Q26858999 | A developmental and genetic classification for malformations of cortical development: update 2012 |
Q48104999 | Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations |
Q43560265 | Adams-Oliver syndrome |
Q54392633 | Adams-Oliver syndrome: new evidence in variable expressivity? |
Q58328203 | An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum |
Q48154143 | Aplasia Cutis Congenita Associated with Fetus Papyraceus |
Q34223889 | Aplasia cutis congenita and other anomalies associated with methimazole exposure during pregnancy |
Q28294607 | Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase |
Q58193220 | Cardiovascular malformations in Adams-Oliver syndrome |
Q52653012 | CdGAP/ARHGAP31 is regulated by RSK phosphorylation and binding to 14-3-3β adaptor protein. |
Q36974857 | CdGAP/ARHGAP31, a Cdc42/Rac1 GTPase regulator, is critical for vascular development and VEGF-mediated angiogenesis. |
Q41611215 | Conservative Healing of an 11 × 9-cm Aplasia Cutis Congenita of the Scalp with Bone Defect |
Q52868262 | DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. |
Q55656450 | Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. |
Q44413147 | 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 |
Q61258137 | Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort |
Q24626495 | Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies |
Q34478370 | Genomic variants and variations in malformations of cortical development |
Q28261852 | Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies |
Q28266515 | Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome |
Q37577831 | Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report. |
Q42241390 | Multiple aplasia cutis congenita lesions located along Blaschko's lines in a patient with tetralogy of Fallot-A. |
Q28287700 | Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome |
Q28246210 | Mutations in NOTCH1 cause Adams-Oliver syndrome |
Q36960089 | Notch Signaling and the Skeleton |
Q46795621 | Notch Signaling in Development, Tissue Homeostasis, and Disease |
Q28244970 | Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome |
Q41503844 | The scaffold protein Ajuba suppresses CdGAP activity in epithelia to maintain stable cell-cell contacts |
Q52614058 | Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. |
Q38225366 | We have contact: endothelial cell-smooth muscle cell interactions |
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