Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

Autor: Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Mansilla Aparicio E; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., García Santiago FA; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Klotz CM; Swedish Medical Center, Maternal and Fetal Specialty Center, Seattle, Washington, USA., Regojo RM; Department of Pathology, La Paz University Hospital, Madrid, Spain., Anguita E; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Instituto de Investigaciones Biomedicas Sols-Morreale (IIBM), CSIC-UAM, Madrid, Spain., Ryan E; GeneDx, Gaithersburg, Maryland, USA., Juusola J; GeneDx, Gaithersburg, Maryland, USA., Herrero B; Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynecology, Hospital Universitario La Paz. IdiPAZ, Madrid, Spain., Arias P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Parra A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Pascual P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Gallego N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Cazalla M; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Rodriguez-González R; Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynecology, Hospital Universitario La Paz. IdiPAZ, Madrid, Spain., Antolín E; Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynecology, Hospital Universitario La Paz. IdiPAZ, Madrid, Spain., Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium., Ruiz-Perez VL; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium.; Instituto de Investigaciones Biomedicas Sols-Morreale (IIBM), CSIC-UAM, Madrid, Spain., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Rare Malformation Syndromes, Brussels, Belgium.

Publikováno v: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 713-720. Date of Electronic Publication: 2024 Aug 27.

Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate.

Autor: Klotz CM; Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Wang X, Desensi RS, Grubs RE, Costello BJ, Marazita ML

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2010 Nov; Vol. 152A (11), pp. 2697-702.

Neuromuscular manifestations in a patient with ehlers-danlos syndrome type IV.

Autor: Barboi A; Department of Neurology, Medical College of Wisconsin, Milwaukee, WI 53226, USA. abarboi@mcw.edu, Dennis C, Timins M, Peltier W, Klotz CM, Jaradeh S

Publikováno v: Journal of clinical neuromuscular disease [J Clin Neuromuscul Dis] 2009 Dec; Vol. 11 (2), pp. 81-7.

[Coalpha/Cobeta-isomerism of corrinoids. Partial synthesis and Escherichia coli activity of further isomer pairs of the (Co-methyl)-corrinoids (author's transl)].

Autor: Moskophidis M, Klotz CM, Friedrich W

Publikováno v: Zeitschrift fur Naturforschung. Section C, Biosciences [Z Naturforsch C Biosci] 1976 May-Jun; Vol. 31 (5-6), pp. 255-62.