Compound heterozygous deletions of PMP22causing severe CharcotMarieTooth disease of the DejerineSottas disease phenotypeHow to cite this article: AlThihli K, Rudkin T, Carson N, Poulin C, Melançon S, Der Kaloustian VM. 2008. Compound heterozygous deletions of PMP22causing severe CharcotMarieTooth disease of the DejerineSottas disease phenotype. Am J Med Genet Part A 146A:2412–2416.

Autor: AlThihli, Khalid, Rudkin, Teresa, Carson, Nancy, Poulin, Chantal, Melançon, Serge, Der Kaloustian, Vazken M.

Publikováno v: American Journal of Medical Genetics. Part A; September 2008, Vol. 146 Issue: 18 p2412-2416, 5p

Unusual dicentric chromosome 22 associated with a 22q13 deletionHow to cite this article: Babineau T, Wilson HL, Dawson AJ, Chodirker BN, Der Kaloustian VM, Demczuk S, McDermid HE. 2006. Unusual dicentric chromosome 22 associated with a 22q13 deletion. Am J Med Genet Part A 140A:2819–2823.Tina Babineau and Heather L. Wilson contributed equally to this article.

Autor: Babineau, Tina, Wilson, Heather L., Dawson, Angelika J., Chodirker, Bernard N., Der Kaloustian, Vazken M., Demczuk, Suzanne, McDermid, Heather E.

Publikováno v: American Journal of Medical Genetics. Part A; December 2006, Vol. 140 Issue: 24 p2819-2823, 5p

A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study

Autor: Der Kaloustian Vm, Koenekoop Rk, Dubé P, S. Demczuk, Saabti H

Publikováno v: Ophthalmic Genetics. 21:211-216

We describe a child with global developmental delay, prominent metopic suture, trigonocephaly, and cryptorchidism whose symptoms resemble the well-known 9p deletion syndrome or 9p monosomy. We also noted congenital hydrocephalus, oculocutaneous albin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c31d92bdfa0c25d50b1cc11531a922e5
https://doi.org/10.1076/1381-6810(200012)2141-hft211

Schinzel-Giedion syndrome: further delineation of the phenotype

Autor: Alison M. Elliott, der Kaloustian Vm, Meagher-Villemure K, Oudjhane K

Publikováno v: Clinical Dysmorphology. 5:135-142

We describe a male infant with findings typical of Schinzel-Giedion syndrome. Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs. The patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4421edd26395e76c4758a193a95ab673
https://doi.org/10.1097/00019605-199604000-00005

The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.

Autor: Hale, Andrew T.¹ (AUTHOR) andrewthale@uabmc.edu, Boudreau, Hunter¹ (AUTHOR), Devulapalli, Rishi² (AUTHOR), Duy, Phan Q.³ (AUTHOR), Atchley, Travis J.¹ (AUTHOR), Dewan, Michael C.⁴ (AUTHOR), Goolam, Mubeen⁵ (AUTHOR), Fieggen, Graham^5,6 (AUTHOR), Spader, Heather L.³ (AUTHOR), Smith, Anastasia A.⁷ (AUTHOR), Blount, Jeffrey P.⁷ (AUTHOR), Johnston, James M.⁷ (AUTHOR), Rocque, Brandon G.⁷ (AUTHOR), Rozzelle, Curtis J.⁷ (AUTHOR), Chong, Zechen⁸ (AUTHOR), Strahle, Jennifer M.⁹ (AUTHOR), Schiff, Steven J.¹⁰ (AUTHOR), Kahle, Kristopher T.¹¹ (AUTHOR)

Publikováno v: Fluids & Barriers of the CNS. 3/4/2024, Vol. 21 Issue 1, p1-135. 135p.