𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Germline mutation in the FGFR3 gene in a TWIST1-negative family with saethre-chotzen syndrome and breast cancer

✍ Scribed by Pelle Sahlin; Peter Tarnow; Tommy Martinsson; Göran Stenman

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
241 KB
Volume
48
Category
Article
ISSN
1045-2257

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Breast cancer risk is not increased in i
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre–Chotzen syndrome: An Australian multicenter study
✍ Paul A. James; Bronwyn Culling; Glenda Mullan; Mark Jenkins; George Elakis; Anne 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB 👁 2 views

## Abstract Saethre‐Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in individuals with a clinical diagnosis of SCS. Because of the potential

New nonsense mutation in the breast canc
New nonsense mutation in the breast cancer-1 gene in a French site-specific breast cancer family
✍ V Laplace-Marieze; N Presneau; C Girodet; V Vidal; C Vaurs; P Rio; Y-J Bignon 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB 👁 3 views

Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of

A novel mutation in the BRCA1 gene in a
A novel mutation in the BRCA1 gene in a German early-onset breast cancer family
✍ Beate Waindzoch; Klaus Grade; Burkhard Jandrig; Manuela Müller; Peter Schlag; Si 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 2 views

severe pulmonary and intestinal disease including ileus at birth and liver cirrhosis at the age 5 years, whereas the other one developed much better with only mild pulmonary changes. Clinical follow-up evaluation of our patient, a 5-year-old girl, was evocative of an intermediary status. Diagnosis o

Germline mutation and large deletion ana
Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer
✍ Tadeusz Dębniak; Bohdan Górski; Rodney J. Scott; Cezary Cybulski; Krzysztof Mędr 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 French ⚖ 75 KB 👁 2 views

## Abstract The __CDKN2A/ARF__ genes have been associated with increased risk of malignant melanoma (MM) in families with multiple members affected by disease and in families characterized by the constellation of breast cancer and MM. The exact contribution of __CDKN2A/ARF__ to disease risk remains