✦ LIBER ✦

Reply to letter to the editor by Nicholls??mosaicism in Praeder-Willi syndrome?

✍ Scribed by Mowery-Rushton, Patricia A.; Hanchett, Jeanne M.; Zipf, William B.; Rogan, Peter K.; Surti, Urvashi

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 2 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000117)90:2<177::aid-ajmg19>3.0.co;2-5

No coin nor oath required. For personal study only.

✦ Synopsis

prompted us to re-examine the issue of mosaicism in several cases of atypical Prader-Willi syndrome reported in 1996 [Mowery

📜 SIMILAR VOLUMES

Mosaicism in Prader-Willi syndrome

✍ Nicholls, Robert D. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 4 KB 👁 2 views

Several recent studies have suggested the presence of mosaicism for a deletion, detected by fluorescence in situ hybridization (FISH), within chromosome 15q11-q13 in Prader-Willi syndrome (PWS) [Mowery-Rushton et al., 1996;Malzac et al., 1998;Golden et al., 1999]. However, the evidence supporting mo

Reply to letter to the editor by Wilkie?

Reply to letter to the editor by Wilkie??Epidemiology and genetics of craniosynostosis?

✍ Bower, Carol; Singer, Steven; Southall, Peter; Goldblatt, Jack 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 1 KB 👁 1 views

Reply to the letter to the editor by Mil

Reply to the letter to the editor by Miller??bone loading?

✍ Kelly, Thaddeus E. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 813 B

The comments of Frost are quite appropriate relative to our case report. The in utero fractures were apparently of different ages and were healing in a reasonable fashion. The fact that no fractures occurred during delivery or the few months that the infant survived speaks again of an intrinsic defe

Reply to the letter to the editor by Gri

Reply to the letter to the editor by Gripp et al.??Not Antley-Bixler syndrome?

✍ Chitayat, David; Chun, Kathy 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 3 KB 👁 1 views

Reply to the letter to the editor by Zac

Reply to the letter to the editor by Zackai??deletion 4q34.2?

✍ Tsai, Chun-Hui; Van Dyke, Daniel L.; Feldman, Gerald L. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 1 views

Reply to letter to the editor by Schrand

Reply to letter to the editor by Schrander-Stumpel??What's in a name??

✍ Kajii, Tadashi; Niikawa, Norio 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 1 KB 👁 1 views

We read with interest, and unease, the letter by Dr. Schrander-Stumpel [1998] on the importance of using terminology that is least offensive to the patients and families involved, and took notice that for this reason Dr. Schrander-Stumpel and others in Europe and the USA do not use the term Kabuki "