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Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Shawna M Pyott, Ulrike Schwarze, Helena E Christiansen, Melanie G Pepin, Dru F Leistritz, Richard Dineen, Catharine Harris, Barbara K Burton, Brad Angle, Katherine Kim, Michael D Sussman, Maryann Weis, David R Eyre, David W Russell, Kevin J McCarthy, Robert D Steiner, Peter H Byers

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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

Benjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, Ludovic Martin, Daniel C Koboldt, Georgios Kellaris, Lorraine Fievet, Guylène Le Meur, Dominique Caldari, Dominique Debray, Mathilde Nizon, Eirik Frengen, Sara J Bowne, Elizabeth L Cadena, Stephen P Daiger, Kinga M Bujakowska, Eric A Pierce, Michael Gorin, Nicholas Katsanis, Stéphane Bézieau, Simon M Petersen-Jones, Laurence M Occelli, Leslie A Lyons, Laurence Legeai-Mallet, Lori S Sullivan, Erica E Davis, Bertrand Isidor

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Mutations in the Human Biotinidase Gene That Cause Profound Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical, and Clinical Analysis

R J Pomponio, J Hymes, T R Reynolds, G A Meyers, K Fleischhauer, G A Buck, B Wolf

Publication

Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC.

Stephanie J Attarian, Sandra L Leibel, Ping Yang, Danielle N Alfano, Brian P Hackett, F Sessions Cole, Aaron Hamvas

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Mutations in the Ca2+-Sensing Receptor Gene Cause Autosomal Dominant and Sporadic Hypoparathyroidism

J Baron, K K Winer, J A Yanovski, A W Cunningham, L Laue, D Zimmerman, G B Cutler

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Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Bobby G Ng, Karl Hackmann, Melanie A Jones, Alexey M Eroshkin, Ping He, Roy Wiliams, Shruti Bhide, Vincent Cantagrel, Joseph G Gleeson, Amy S Paller, Rhonda E Schnur, Sigrid Tinschert, Janice Zunich, Madhuri R Hegde, Hudson H Freeze

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Mutations in the Mu Heavy-Chain Gene in Patients with Agammaglobulinemia

L Yel, Y Minegishi, E Coustan-Smith, R H Buckley, H Trübel, L M Pachman, G R Kitchingman, D Campana, J Rohrer, M E Conley

Publication

Mutations Causing Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States Occur at Different Frequencies than in Symptomatic Children

K J Norrgard, R J Pomponio, J Hymes, B Wolf

Publication

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Oonagh Dowling, Analisa Difeo, Maria C Ramirez, Turgut Tukel, Goutham Narla, Luisa Bonafe, Hulya Kayserili, Memnune Yuksel-Apak, Amy S Paller, Karen Norton, Ahmad S Teebi, Valerie Grum-Tokars, Gail S Martin, George E Davis, Marc J Glucksman, John A Martignetti

Publication

Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

Ranad Shaheen, Hanan E Shamseldin, Catrina M Loucks, Mohammed Zain Seidahmed, Shinu Ansari, Mohamed Ibrahim Khalil, Nadya Al-Yacoub, Erica E Davis, Natalie A Mola, Katarzyna Szymanska, Warren Herridge, Albert E Chudley, Bernard N Chodirker, Jeremy Schwartzentruber, Jacek Majewski, Nicholas Katsanis, Coralie Poizat, Colin A Johnson, Jillian Parboosingh, Kym M Boycott, A Micheil Innes, Fowzan S Alkuraya

Publication

Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis

Patrick G Gallagher, Laurie A Steiner, Robert I Liem, Ashley N Owen, Amanda P Cline, Nancy E Seidel, Lisa J Garrett, David M Bodine

Publication

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

J C Achermann, W X Gu, T J Kotlar, J J Meeks, L P Sabacan, S B Seminara, R L Habiby, P C Hindmarsh, D P Bick, R J Sherins, W F Crowley, L C Layman, J L Jameson

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