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  • BMP9 and BMP10 are necessar... BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus
    Levet, Sandrine; Marie OuarneÌ; Delphine Ciais ... Proceedings of the National Academy of Sciences - PNAS, 06/2015, Volume: 112, Issue: 25
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    Significance At birth, newborns must switch from the fetal aquatic life to the aerial one, by closure of a vessel named the ductus arteriosus. During fetal life, it allows blood to bypass the lungs, ...
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  • Aneurysm Syndromes Caused b... Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
    Loeys, Bart L; Schwarze, Ulrike; Holm, Tammy ... New England journal of medicine/˜The œNew England journal of medicine, 08/2006, Volume: 355, Issue: 8
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    Aggressive arterial aneurysms, such as thoracic aortic aneurysms and aortic dissection, were found to be caused by mutations in the genes encoding the transforming growth factor β (TGF-β) receptor I ...
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  • Loss-of-Function Mutations ... Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans
    Liegel, Ryan P.; Handley, Mark T.; Ronchetti, Adam ... American journal of human genetics, 12/2013, Volume: 93, Issue: 6
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    blind sterile (bs) is a spontaneous autosomal-recessive mouse mutation discovered more than 30 years ago. Phenotypically, bs mice exhibit nuclear cataracts and male infertility; genetic analyses ...
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  • Postzygotic inactivating mu... Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
    Vabres, Pierre; Sorlin, Arthur; Kholmanskikh, Stanislav S ... Nature genetics, 10/2019, Volume: 51, Issue: 10
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    Hypopigmentation along Blaschko's lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA ...
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  • BGN Mutations in X-Linked S... BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
    Cho, Sung Yoon; Bae, Jun-Seok; Kim, Nayoung K.D. ... American journal of human genetics, 06/2016, Volume: 98, Issue: 6
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    Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian ...
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  • Delineation and diagnostic ... Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
    Poretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul C M ... Orphanet journal of rare diseases, 01/2012, Volume: 7, Issue: 1
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    Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual ...
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  • SPECC1L Mutations Are Not C... SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome
    Migliore, Chiara; Vendramin, Anna; McKee, Shane ... Genes, 01/2022, Volume: 13, Issue: 2
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    Opitz G/BBB syndrome (OS) is a rare genetic developmental condition characterized by congenital defects along the midline of the body. The main clinical signs are represented by hypertelorism, ...
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  • Fine-grained facial phenoty... Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome
    HAMMOND, Peter; HANNES, Femke; SOUTH, Sarah T ... European journal of human genetics, 01/2012, Volume: 20, Issue: 1
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    Wolf-Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other ...
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  • SOS1 mutations in Noonan sy... SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
    Lepri, Francesca; De Luca, Alessandro; Stella, Lorenzo ... Human mutation, July 2011, Volume: 32, Issue: 7
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    Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS‐MAPK signaling and is genetically heterogeneous, which explains, ...
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  • FXS-Like Phenotype in Two U... FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene
    Fernández, Esperanza; Gennaro, Elena; Pirozzi, Filomena ... Frontiers in genetics, 11/2018, Volume: 9
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    Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located in the 5'UTR of the gene, and methylation of ...
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