Search Results - (Author, Cooperation:B. A. Semmekrot)
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1Latest Papers from Table of Contents or Articles in PressL. M. Boyden ; M. Choi ; K. A. Choate ; C. J. Nelson-Williams ; A. Farhi ; H. R. Toka ; I. R. Tikhonova ; R. Bjornson ; S. M. Mane ; G. Colussi ; M. Lebel ; R. D. Gordon ; B. A. Semmekrot ; A. Poujol ; M. J. Valimaki ; M. E. De Ferrari ; S. A. Sanjad ; M. Gutkin ; F. E. Karet ; J. R. Tucci ; J. R. Stockigt ; K. M. Keppler-Noreuil ; C. C. Porter ; S. K. Anand ; M. L. Whiteford ; I. D. Davis ; S. B. Dewar ; A. Bettinelli ; J. J. Fadrowski ; C. W. Belsha ; T. E. Hunley ; R. D. Nelson ; H. Trachtman ; T. R. Cole ; M. Pinsk ; D. Bockenhauer ; M. Shenoy ; P. Vaidyanathan ; J. W. Foreman ; M. Rasoulpour ; F. Thameem ; H. Z. Al-Shahrouri ; J. Radhakrishnan ; A. G. Gharavi ; B. Goilav ; R. P. Lifton
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-01-24Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Amino Acid Sequence ; Animals ; Base Sequence ; Blood Pressure/genetics ; Carrier Proteins/chemistry/*genetics ; Cohort Studies ; Cullin Proteins/chemistry/*genetics ; Electrolytes ; Exons/genetics ; Female ; Gene Expression Profiling ; Genes, Dominant/genetics ; Genes, Recessive/genetics ; Genotype ; Homeostasis/genetics ; Humans ; Hydrogen-Ion Concentration ; Hypertension/complications/*genetics/physiopathology ; Male ; Mice ; Models, Molecular ; Molecular Sequence Data ; Mutation/*genetics ; Phenotype ; Potassium/metabolism ; Pseudohypoaldosteronism/complications/*genetics/physiopathology ; Sodium Chloride/metabolism ; Water-Electrolyte Imbalance/complications/*genetics/physiopathologyPublished by: -
2Articles: DFG German National Licensesde Boode, W. P. ; Semmekrot, B. A. ; ter Laak, H. J. ; van der Burgt, C. J. A. M. ; Draaisma, J. M. T. ; Lommen, E. J. P. ; Sengers, R. C. A. ; van Wijk-Hoek, J. M.
Springer
Published 1996Staff ViewISSN: 1432-0533Keywords: Key words Noonan syndrome ; Muscle spindle ; Cardiomyopathy ; Hypotonia ; MyopathySource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract Two patients with a Noonan phenotype and progressive hypertrophic obstructive cardiomyopathy are described, in whom abnormal histopathological changes in striated musculature were detected. In both patients an increased density of muscle spindles was found at biopsy. The significance of an increased density of muscle spindles in patients with Noonan phenotype can only be speculated. The question is raised of whether these changes are a distinct feature within the spectrum of patients with Noonan phenotype.Type of Medium: Electronic ResourceURL: -
3Articles: DFG German National Licensesten Donkelaar, H. J. ; Wesseling, P. ; Semmekrot, B. A. ; Liem, K. D. ; Tuerlings, J. ; Cruysberg, J. R. M. ; de Wit, P. E. J.
Springer
Published 1999Staff ViewISSN: 1432-0533Keywords: Key words Microcephaly ; Pyramid absence ; Inferior ; olive dysplasia ; CataractSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract In two siblings (a female and a male neonate), severe microcephaly, bilateral absence of the pyramids, severe hypoplasia of the cerebral peduncles, and dysplasia of the inferior olives was found together with microphthalmia, facial malformations and multiple contractures of the extremities. In both cases, the cerebral hemispheres otherwise showed a more or less normal gyral pattern with the insula incompletely covered by the opercula, and a torn but otherwise intact corpus callosum. In case 2, congenital cataract was also observed. The present cases can be characterized as a rapidly fatal, familial syndrome, probably transmitted as an autosomal recessive trait, and have several features in common with the Neu-Laxova syndrome. They differ in having a less severe form of microcephaly, a rather normal cytoarchitecture of the cerebral cortex, an apparently normal corpus callosum, no gross cerebellar abnormalities, and no other organ malformations. The present cases belong to a group of heterogeneous syndromes which have microcephaly, ocular and facial malformations, multiple contractures, and ichthyosis-like skin in common.Type of Medium: Electronic ResourceURL: -
4Articles: DFG German National LicensesSemmekrot, B. A. ; Wesseling, P. ; Bruinenberg, J. F. M. ; Gabreëls, F. M. ; ter Laak, H. ; Sengers, R. C. A.
Springer
Published 1997Staff ViewISSN: 1432-0533Keywords: Key words Infant ; Bunina bodies ; Autonomic ; dysfunction ; Motor neuron disease ; Amyotrophic ; lateral sclerosisSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract A 2-month-old girl developed motor neuron disease (MND) with autonomic disturbances and died at the age of 5 months. Neuropathological examination revealed Bunina bodies (BBs) in the lower motor neurons of the lumbar spinal cord. The significance of the presence of BBs and the classification of the MND in this child are discussed.Type of Medium: Electronic ResourceURL: -
5Articles: DFG German National LicensesStaff View
ISSN: 1432-1076Source: Springer Online Journal Archives 1860-2000Topics: MedicineType of Medium: Electronic ResourceURL: -
6Articles: DFG German National LicensesVerlaat, C. W. M. ; Peters, H. M. ; Semmekrot, B. A. ; Wiersma-van Tilburg, J. M.
Springer
Published 1994Staff ViewISSN: 1432-1076Keywords: Key words: Respiratory distress – New born – Pulmonary lymphangiectasis – Pulmonary lymphatics – Unilateral hyperlucent lungSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract. Congenital pulmonary lymphangiectasis can be a cause of respiratory distress of the newborn infant. We present a case of congenital pulmonary lymphangiectasis presenting as a unilateral hyperlucent lung. Such a presentation has only once been previously described.Type of Medium: Electronic ResourceURL: -
7Articles: DFG German National LicensesAgbeko, R. S. ; Semmekrot, B. A. ; Bongaerts, G. P. A. ; Neeleman, C. ; Severijnen, R. S. V. M.
Springer
Published 1998Staff ViewISSN: 1432-1076Source: Springer Online Journal Archives 1860-2000Topics: MedicineType of Medium: Electronic ResourceURL: -
8Articles: DFG German National LicensesVerlaat, C. W. M. ; Peters, H. M. ; Semmekrot, B. A. ; Wiersma-van Tilburg, J. M.
Springer
Published 1994Staff ViewISSN: 1432-1076Keywords: Respiratory distress ; Newborn ; Pulmonary lymphangiectasis ; Pulmonary lymphatics ; Unilateral hyperlucent lungSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract Congenital pulmonary lymphangiectasis can be a cause of respiratory distress of the newborn infant. We present a case of congenital pulmonary lymphangiectasis presenting as a unilateral hyperlucent lung. Such a presentation has only once been previously described.Type of Medium: Electronic ResourceURL: