Search Results

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

• Authors : Brady, Paul D¹; Van Esch, Hilde¹; Fieremans, Nathalie¹

Subjects: *MICROPHTHALMIA; *EYE diseases; *PHENOTYPES

• Source: European Journal of Human Genetics. Apr2015, Vol. 23 Issue 4, p551-554. 4p.

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A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

• Authors : Titomanlio, Luigi; Giurgea, Irina; Baumann, Clarisse

Subjects: POTTER'S syndrome; DYSPLASIA; SACRUM

• Source: European Journal of Human Genetics. Aug2006, Vol. 14 Issue 8, p971-974. 4p. 1 Black and White Photograph, 1 Diagram, 1 Chart.

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Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

• Authors : Choi, Alex¹; Lao, Richard²; Ling-Fung Tang, Paul²

Subjects: *GENETIC mutation; *MICROPHTHALMIA; *ANTERIOR eye segment

• Source: European Journal of Human Genetics. Mar2015, Vol. 23 Issue 3, p337-341. 5p.

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A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.

• Authors : Mory, Adi¹; Ruiz, Francesc X²; Dagan, Efrat³

Subjects: *GENETIC mutation; *ALDEHYDE dehydrogenase; *MICROPHTHALMIA

• Source: European Journal of Human Genetics. Mar2014, Vol. 22 Issue 3, p419-422. 4p.

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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

• Authors : Jones, Gabriela E; Ostergaard, Pia; Moore, Anthony T

Subjects: MICROCEPHALY; INTELLECTUAL disabilities; HUMAN phenotype

• Source: European Journal of Human Genetics. Jul2014, Vol. 22 Issue 7, p881-887. 7p.

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FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).

• Authors : Bartsch, Oliver; Rasi, Sasan; Hoffmann, Kristina

Subjects: FLUORESCENCE in situ hybridization; GENETIC markers; BIOMARKERS

• Source: European Journal of Human Genetics. May2005, Vol. 13 Issue 5, p592-598. 7p.

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Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4?Mb region.

• Authors : Michon, Laetitia; Morlé, Laurette; Bozon, Muriel

Subjects: HUMAN abnormalities; CHROMOSOMES; CELL nuclei

• Source: European Journal of Human Genetics. Jul2004, Vol. 12 Issue 7, p574-578. 5p.

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Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

• Authors : Delahaye, Andrée; Bitoun, Pierre; Drunat, Séverine

Subjects: GENETICS of eye abnormalities; HEREDITY; HUMAN abnormality genetics

• Source: European Journal of Human Genetics. May2012, Vol. 20 Issue 5, p527-533. 7p. 1 Diagram, 1 Chart, 1 Graph.

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POSTERS TOPIC A: CLINICAL GENETICS.

Subjects: MEDICAL research; MITOCHONDRIAL DNA; DOWN syndrome

• Source: European Journal of Human Genetics; Jul99 Supplement 1, Vol. 7, p48-71, 24p

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Novel SOX2 partner-factor domain mutation in a four-generation family.

• Authors : Mihelec, Marija; Abraham, Peter; Gibson, Kate

Subjects: EYE diseases; VISION disorders; GENETIC mutation

• Source: European Journal of Human Genetics; Nov2009, Vol. 17 Issue 11, p1417-1422, 6p, 1 Color Photograph, 2 Diagrams, 1 Chart

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