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Publication : european journal of human genetics

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Academic Journal

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.

Authors : van de Meerakker, Judith B. A.¹; van Engelen, Klaartje²; Mathijssen, Inge B.³

Source: European Journal of Human Genetics. Jul2011, Vol. 19 Issue 7, p820-826. 7p. 1 Diagram, 1 Chart, 2 Graphs.

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Academic Journal

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

Authors : Asadollahi, Reza¹; Oneda, Beatrice¹; Sheth, Frenny²

Source: European Journal of Human Genetics. Oct2013, Vol. 21 Issue 10, p1100-1104. 5p.

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Academic Journal

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.

Authors : Joziasse, Irene C.¹; Smith, Kelly A.^2,3; Chocron, Sonja^2,3

Source: European Journal of Human Genetics. Apr2011, Vol. 19 Issue 4, p389-393. 5p. 1 Diagram, 1 Chart, 2 Graphs.

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Academic Journal

Atrioventricular canal defect in patients with RASopathies.

Authors : Digilio, Maria Cristina¹; Romana Lepri, Francesca¹; Lisa Dentici, Maria¹

Source: European Journal of Human Genetics. Feb2013, Vol. 21 Issue 2, p200-204. 5p. 1 Black and White Photograph, 3 Charts.

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Academic Journal

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.

Authors : Wieczorek, Dagmar; Krause, Mario; Majewski, Frank

Source: European Journal of Human Genetics. Jul2000, Vol. 8 Issue 7, p519. 8p.

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Academic Journal

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.

Authors : Moncini, Silvia¹; Bonati, Maria Teresa²; Morella, Ilaria³

Source: European Journal of Human Genetics. Nov2015, Vol. 23 Issue 11, p1531-1537. 7p.

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Academic Journal

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

Authors : Ockeloen, Charlotte W¹; Willemsen, Marjolein H¹; de Munnik, Sonja¹

Source: European Journal of Human Genetics. Sep2015, Vol. 23 Issue 9, p1176-1185. 10p.

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Academic Journal

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Authors : Kolanczyk, Mateusz¹; Krawitz, Peter²; Hecht, Jochen²

Source: European Journal of Human Genetics. May2015, Vol. 23 Issue 5, p633-638. 6p.

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Academic Journal

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

Authors : Vissers, Lisenka ELM¹; Bonetti, Monica²; Paardekooper Overman, Jeroen²

Source: European Journal of Human Genetics. Mar2015, Vol. 23 Issue 3, p317-324. 8p.

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Academic Journal

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Authors : Verloes, Alain¹; Di Donato, Nataliya²; Masliah-Planchon, Julien³

Source: European Journal of Human Genetics. Mar2015, Vol. 23 Issue 3, p292-301. 10p.

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نتائج البحث

فلترة النتائج

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.

Atrioventricular canal defect in patients with RASopathies.

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

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