Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway (Q28252125)

2

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Akhil Muralidhar Kulkarni

3

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Suhasini Vittalrao

4

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Preethi Muralidhar Kulkarni

American Journal of Medical Genetics Part A

5

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language of work or name

English

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publication date

August 2009

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published in

1 reference

Regulation of skeletogenic differentiation in cranial dermal bone.

PubMed

volume

149A

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page(s)

1678-84

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issue

8

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Molecular mechanisms of pulmonary arterial hypertension: role of mutations in the bone morphogenetic protein type II receptor

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Adams-Oliver syndrome: a case with juvenile chronic myelogenous leukemia and chylothorax

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Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

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A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

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A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

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Dosage-dependent requirement of BMP type II receptor for maintenance of vascular integrity.

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The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases

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BMP receptor signaling: transcriptional targets, regulation of signals, and signaling cross-talk

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Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome.

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Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.

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A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: further evidence of vascular pathology?

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Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.

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Interplay between bone morphogenetic proteins and cognate binding proteins in bone and cartilage development: noggin, chordin and DAN.

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Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

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Aplasia cutis congenita: a report of 12 new families and review of the literature

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Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

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Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

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Role of bone morphogenetic proteins in cardiac differentiation

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Clinical and molecular analysis of nine families with Adams-Oliver syndrome

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Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes

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Adams-Oliver syndrome revisited

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Adams-Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?

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Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome

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