𝔖 Bobbio Scriptorium
✦   LIBER   ✦

X-linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum

✍ Scribed by Francesca De Falco; Silvia Cainarca; Grazia Andolfi; Rosa Ferrentino; Caterina Berti; German Rodríguez Criado; Olaf Rittinger; Nick Dennis; Sylvie Odent; Amit Rastogi; Jan Liebelt; David Chitayat; Robin Winter; Harindar Jawanda; Andrea Ballabio; Brunella Franco; Germana Meroni


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
174 KB
Volume
120A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Aarskog–Scott syndrome: Clinical update
✍ A. Orrico; L. Galli; L. Faivre; J. Clayton-Smith; S.M. Azzarello-Burri; J.M. Her 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 1 views

## Abstract Mutations in the __FGD1__ gene have been shown to cause Aarskog–Scott syndrome (AAS), or facio‐digito‐genital dysplasia (OMIM#305400), an X‐linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date

Identification of novel mutations in the
✍ Anna Buj-Bello; Valérie Biancalana; Céline Moutou; Jocelyn Laporte; Jean-Louis M 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 2 views

X-linked myotubular myopathy (XLMTM) is a congenital muscular disease characterized by severe hypotonia and generalized muscle weakness, leading in most cases to early postnatal death. The gene responsible for the disease, MTM1, encodes a dual specificity phosphatase, named myotubularin, which is hi

Identification of four novel mutations o
✍ Yukihiko Mashima; Kei Shinoda; Susumu Ishida; Yoko Ozawa; Jun Kudoh; Takeshi Iwa 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

The XLRS1 gene (HUGO-approved symbol, RS1) has been found to cause X-linked recessive retinoschisis (RS) which is characterized by splitting of the superficial layer of the retina. Recent mutation analysis of this gene revealed 82 different mutations in 214 patients with RS. We have now identified 1

Six novel mutations in the emerin gene c
✍ Karin Wulff; Julia E. Parrish; Falko H. Herrmann; Manfred Wehnert 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 1 views

## Communicated by Jiirgen Horst Mutations in the emerin gene, also referred to as the STA-or EMD-gene, have been found to be the cause of X-linked Emery-Dreifuss muscular dystrophy (EMD). For the present study an optimized set of primers was designed to amplify and sequence each of the six emerin

Identification of nine novel mutations i
✍ Paola Orlandi; Kostas Ritis; Viviana Moschese; Federica Angelini; Konstantinos A 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 2 views

## Mutations in the Bruton's tyrosine kinase (BTK ) gene are responsible for X-linked Agammaglobulinemia (XLA), an immunodeficiency caused by a block in B cell differentiation. Non Isotopic RNAse Cleavage Assay (NIRCA), followed by sequencing was used to screen for BTK mutations in 11 Italian XLA p