✦ LIBER ✦

Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2

✍ Scribed by Matsuoka, Rumiko ;Takao, Atsuyoshi ;Kimura, Misa ;Imamura, Shin-ichiro ;Kondo, Chisato ;Joh-o, Kunitaka ;Ikeda, Kazuo ;Nishibatake, Makoto ;Ando, Masahiko ;Momma, Kazuo

Book ID: 102703457
Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 570 KB
Volume: 53
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320530314

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Confirmation that the velo-cardio-facial

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11

✍ Kelly, David ;Goldberg, Rosalie ;Wilson, David ;Lindsay, Elizabeth ;Carey, Aliso 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 963 KB

Frequency of thrombocytopenia and large

Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome

✍ Véronique Latger-Cannard; Danièle Bensoussan; Marie-Josée Grégoire; François Mar 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 167 KB

Cloning and Characterization of a NovelR

Cloning and Characterization of a NovelRab-Family Gene,Rab36,within the Region at 22q11.2 That Is Homozygously Deleted in Malignant Rhabdoid Tumors

✍ Toshiki Mori; Yoji Fukuda; Hiroshi Kuroda; Takafumi Matsumura; Shigeru Ota; Tohr 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 336 KB

Delineation of 7q11.2 Deletions Associat

Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common Deletion

✍ W.P. Robinson; J. Waslynka; F. Bernasconi; M. Wang; S. Clark; D. Kotzot; A. Schi 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 188 KB

A child with features of Goldenhar syndr

A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome?

✍ J. Xu; Y.S. Fan; V.M. Siu 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB 👁 2 views

Biochemical Abnormality Associated with

Biochemical Abnormality Associated with Smith-Lemli-Opitz Syndrome in an Infant with Features of Rutledge Multiple Congenital Anomaly Syndrome Confirms that the Latter Is a Variant of the Former

✍ Dinesh Rakheja; Golder N. Wilson; Beverly B. Rogers 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 226 KB