Results
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61.
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Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism. [electronic resource] by
- Long, Philip
- May, Melanie M
- James, Victoria M
- Grannò, Simone
- Johnson, John P
- Tarpey, Patrick
- Stevenson, Roger E
- Harvey, Kirsten
- Schwartz, Charles E
- Harvey, Robert J
Producer: 20160202
In:
Frontiers in molecular neuroscience vol. 8
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62.
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63.
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An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. [electronic resource] by
- Takano, Kyoko
- Liu, Dan
- Tarpey, Patrick
- Gallant, Esther
- Lam, Alex
- Witham, Shawn
- Alexov, Emil
- Chaubey, Alka
- Stevenson, Roger E
- Schwartz, Charles E
- Board, Philip G
- Dulhunty, Angela F
Producer: 20130621
In:
Human molecular genetics vol. 21
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64.
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XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. [electronic resource] by
- Stepp, Monica L
- Cason, A Lauren
- Finnis, Merran
- Mangelsdorf, Marie
- Holinski-Feder, Elke
- Macgregor, David
- MacMillan, Andrée
- Holden, Jeanette J A
- Gecz, Jozef
- Stevenson, Roger E
- Schwartz, Charles E
Producer: 20050607
In:
BMC medical genetics vol. 6
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65.
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66.
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De novo variants in [electronic resource] by
- Bina, Roya
- Matalon, Dena
- Fregeau, Brieana
- Tarsitano, Jacqueline Joani
- Aukrust, Ingvild
- Houge, Gunnar
- Bend, Renee
- Warren, Hannah
- Stevenson, Roger E
- Stuurman, Kyra Eva
- Barkovich, A James
- Sherr, Elliott H
Producer: 20210621
In:
Journal of medical genetics vol. 57
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67.
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A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. [electronic resource] by
- Ramser, Juliane
- Abidi, Fatima E
- Burckle, Celine A
- Lenski, Claus
- Toriello, Helga
- Wen, Gaiping
- Lubs, Herbert A
- Engert, Stefanie
- Stevenson, Roger E
- Meindl, Alfons
- Schwartz, Charles E
- Nguyen, Genevieve
Producer: 20050816
In:
Human molecular genetics vol. 14
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68.
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X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. [electronic resource] by
- Cason, A Lauren
- Ikeguchi, Yoshihiko
- Skinner, Cindy
- Wood, Tim C
- Holden, Kenton R
- Lubs, Herbert A
- Martinez, Francisco
- Simensen, Richard J
- Stevenson, Roger E
- Pegg, Anthony E
- Schwartz, Charles E
Producer: 20040819
In:
European journal of human genetics : EJHG vol. 11
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69.
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Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. [electronic resource] by
- Abidi, Fatima E
- Cardoso, Carlos
- Lossi, Anne-Marie
- Lowry, Robert Brian
- Depetris, Danielle
- Mattéi, Marie-Geneviève
- Lubs, Herbert A
- Stevenson, Roger E
- Fontes, Michel
- Chudley, Albert E
- Schwartz, Charles E
Producer: 20050705
In:
European journal of human genetics : EJHG vol. 13
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70.
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Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. [electronic resource] by
- Rodriguez, Jayson D
- Bhat, Shambhu S
- Meloni, Ilaria
- Ladd, Sydney
- Leslie, Nancy D
- Doyne, Emanuel O
- Renieri, Alessandra
- Dupont, Barbara R
- Stevenson, Roger E
- Schwartz, Charles E
- Srivastava, Anand K
Producer: 20100412
In:
American journal of medical genetics. Part A vol. 152A
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71.
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Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. [electronic resource] by
- Franek, Karl J
- Butler, Julia
- Johnson, John
- Simensen, Richard
- Friez, Michael J
- Bartel, Frank
- Moss, Tonya
- DuPont, Barbara
- Berry, Katherine
- Bauman, Margaret
- Skinner, Cindy
- Stevenson, Roger E
- Schwartz, Charles E
Producer: 20110801
In:
American journal of medical genetics. Part A vol. 155A
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72.
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Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. [electronic resource] by
- Friez, Michael J
- Jones, Julie R
- Clarkson, Katie
- Lubs, Herbert
- Abuelo, Dianne
- Bier, Jo-Ann Blaymore
- Pai, Shashidhar
- Simensen, Richard
- Williams, Charles
- Giampietro, Philip F
- Schwartz, Charles E
- Stevenson, Roger E
Producer: 20061219
In:
Pediatrics vol. 118
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73.
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AGTR2 mutations in X-linked mental retardation. [electronic resource] by
- Vervoort, Virginie S
- Beachem, Michael A
- Edwards, Penny S
- Ladd, Sydney
- Miller, Karin E
- de Mollerat, Xavier
- Clarkson, Katie
- DuPont, Barbara
- Schwartz, Charles E
- Stevenson, Roger E
- Boyd, Ellen
- Srivastava, Anand K
Producer: 20020723
In:
Science (New York, N.Y.) vol. 296
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74.
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A Rare De Novo [electronic resource] by
- Abad, Clemer
- Cook, Melissa M
- Cao, Lei
- Jones, Julie R
- Rao, Nalini R
- Dukes-Rimsky, Lynn
- Pauly, Rini
- Skinner, Cindy
- Wang, Yunsheng
- Luo, Feng
- Stevenson, Roger E
- Walz, Katherina
- Srivastava, Anand K
Publication details: Biology May 2018
In:
Biology vol. 7
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75.
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Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? [electronic resource] by
- Kruszka, Paul
- Uwineza, Annette
- Mutesa, Leon
- Martinez, Ariel F
- Abe, Yu
- Zackai, Elaine H
- Ganetzky, Rebecca
- Chung, Brian
- Stevenson, Roger E
- Adelstein, Robert S
- Ma, Xuefei
- Mullikin, James C
- Hong, Sung-Kook
- Muenke, Maximilian
Producer: 20151005
In:
Molecular genetics & genomic medicine vol. 3
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76.
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A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. [electronic resource] by
- Jiang, Yong-Hui
- Sahoo, Trilochan
- Michaelis, Ron C
- Bercovich, Dani
- Bressler, Jan
- Kashork, Catherine D
- Liu, Qian
- Shaffer, Lisa G
- Schroer, Richard J
- Stockton, David W
- Spielman, Richard S
- Stevenson, Roger E
- Beaudet, Arthur L
Producer: 20050202
In:
American journal of medical genetics. Part A vol. 131
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77.
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Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii. [electronic resource] by
- Henderson, Brittany B
- Chaubey, Alka
- Roth, Lawrence M
- Robboy, Stanley J
- Tarasidis, Gregory
- Jones, Julie R
- Sundermann, John M
- Chou, Jeff
- Craddock, Ann L
- Stevenson, Leslie
- Friez, Michael J
- Kincaid, Edward H
- Stevenson, Roger E
Producer: 20200417
In:
Cytogenetic and genome research vol. 160
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78.
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X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. [electronic resource] by
- Hahn, Kimberly A
- Salomons, Gajja S
- Tackels-Horne, Darci
- Wood, Tim C
- Taylor, Harold A
- Schroer, Richard J
- Lubs, Herbert A
- Jakobs, Cornelis
- Olson, Rick L
- Holden, Kenton R
- Stevenson, Roger E
- Schwartz, Charles E
Producer: 20020523
In:
American journal of human genetics vol. 70
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79.
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Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism. [electronic resource] by
- Mejias, Rebeca
- Adamczyk, Abby
- Anggono, Victor
- Niranjan, Tejasvi
- Thomas, Gareth M
- Sharma, Kamal
- Skinner, Cindy
- Schwartz, Charles E
- Stevenson, Roger E
- Fallin, M Daniele
- Kaufmann, Walter
- Pletnikov, Mikhail
- Valle, David
- Huganir, Richard L
- Wang, Tao
Producer: 20110526
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 108
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80.
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Natural history of Christianson syndrome. [electronic resource] by
- Schroer, Richard J
- Holden, Kenton R
- Tarpey, Patrick S
- Matheus, Maria Giselle
- Griesemer, David A
- Friez, Michael J
- Fan, Jane Zheng
- Simensen, Richard J
- Strømme, Petter
- Stevenson, Roger E
- Stratton, Michael R
- Schwartz, Charles E
Producer: 20110204
In:
American journal of medical genetics. Part A vol. 152A
Availability: No items available.
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