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Items: 1 to 20 of 21

1.
A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
W. Smaili, S. Chafai Elalaoui, S. Meier, M. Zerkaoui, A. Sefiani, K. Heinimann
BMC Med Genet. 2017; 18: 50. Published online 2017 May 3. doi: 10.1186/s12881-017-0413-8
PMCID:
PMC5415804
AbstractArticlePDF–3.0M
2.
Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.
C I Phillips, M Newton, J Duvall, S Holloway, A M Levy
Br J Ophthalmol. 1986 Apr; 70(4): 305–313. doi: 10.1136/bjo.70.4.305
PMCID:
PMC1041004
SummaryPage BrowsePDF–2.5M
3.
Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis.
T A Smolarek, L L Wessner, F X McCormack, J C Mylet, A G Menon, E P Henske
Am J Hum Genet. 1998 Apr; 62(4): 810–815. doi: 10.1086/301804
PMCID:
PMC1377043
SummaryPDF–465K
4.
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11
P. Stromme, K. Sundet, C. Mork, J. Cassiman, J. Fryns, S. Claes
J Med Genet. 1999 May; 36(5): 374–378.
PMCID:
PMC1734364
SummaryPDF–113K
5.
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Cristina Gervasini, Federica Mottadelli, Roberto Ciccone, Paola Castronovo, Donatella Milani, Gioacchino Scarano, Maria Francesca Bedeschi, Serena Belli, Alba Pilotta, Angelo Selicorni, Orsetta Zuffardi, Lidia Larizza
Eur J Hum Genet. 2010 Jul; 18(7): 768–775. Published online 2010 Feb 3. doi: 10.1038/ejhg.2010.1
PMCID:
PMC2987354
AbstractArticlePDF–632K
6.
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia
Pierluigi Marzuillo, Anna Grandone, Ruggero Coppola, Domenico Cozzolino, Adalgisa Festa, Federica Messa, Caterina Luongo, Emanuele Miraglia del Giudice, Laura Perrone
BMC Med Genet. 2013; 14: 28. Published online 2013 Feb 23. doi: 10.1186/1471-2350-14-28
PMCID:
PMC3598247
AbstractArticlePDF–3.2M
7.
Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1
Alexandra M. Lopes, Kenneth I. Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J. Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B. Wilfert, Juncheng Dai, Jonathan M. Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E. Hurles, Sergey Moskovtsev, Carole Ober, Darius A. Paduch, Joshua D. Schiffman, Peter N. Schlegel, Mário Sousa, Douglas T. Carrell, Donald F. Conrad
PLoS Genet. 2013 Mar; 9(3): e1003349. Published online 2013 Mar 21. doi: 10.1371/journal.pgen.1003349
PMCID:
PMC3605256
AbstractArticlePDF–968K
8.
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, Daniela Rusconi, Maura Masciadri, Anna Cereda, Cinzia Marzocchi, Giuseppe Zampino, Angelo Selicorni, Romano Tenconi, Silvia Russo, Lidia Larizza, Palma Finelli
BMC Med Genet. 2013; 14: 41. Published online 2013 Apr 3. doi: 10.1186/1471-2350-14-41
PMCID:
PMC3626829
AbstractArticlePDF–507K
9.
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, Koen Devriendt, Thomy JL de Ravel, Hilde Van Esch, Ingele Casteels, Ignacio Arroyo Carrera, Francesca Cristofoli, Karen Fieggen, Katheryn Jones, Mark Lipson, Irina Balikova, Ami Singer, Maria Soller, María Mercedes Villanueva, Nicole Revencu, Laurence M Boon, Pascal Brouillard, Miikka Vikkula
Orphanet J Rare Dis. 2015; 10: 52. Published online 2015 May 2. doi: 10.1186/s13023-015-0271-4
PMCID:
PMC4464120
AbstractArticlePDF–1.6M
10.
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro, Elena Domínguez-Garrido
BMC Med Genet. 2016; 17: 97. Published online 2016 Dec 13. doi: 10.1186/s12881-016-0361-8
PMCID:
PMC5154174
AbstractArticlePDF–583K
11.
Risk factors for the development of autism spectrum disorder in children with tuberous sclerosis complex: protocol for a systematic review
Rebecca Mitchell, Sarah Barton, A. Simon Harvey, Katrina Williams
Syst Rev. 2017; 6: 49. Published online 2017 Mar 8. doi: 10.1186/s13643-017-0448-0
PMCID:
PMC5341363
AbstractArticlePDF–392K
12.
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice
María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro
Orphanet J Rare Dis. 2023; 18: 201. Published online 2023 Jul 21. doi: 10.1186/s13023-023-02809-z
PMCID:
PMC10362575
AbstractArticlePDF–1.0M
13.
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido
BMC Med Genet. 2018; 19: 36. Published online 2018 Mar 5. doi: 10.1186/s12881-018-0548-2
PMCID:
PMC5839060
AbstractArticlePDF–2.7M
14.
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes
Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel
Mol Genet Genomic Med. 2020 Sep; 8(9): e1263. Published online 2020 Apr 26. doi: 10.1002/mgg3.1263
PMCID:
PMC7507388
AbstractArticlePDF–862K
15.
Tuberous sclerosis: a review of the past, present, and future
Sanem Pınar UYSAL, Mustafa ŞAHİN
Turk J Med Sci. 2020; 50(7): 1665–1676. Published online 2020 Nov 3. doi: 10.3906/sag-2002-133
PMCID:
PMC7672342
AbstractArticlePDF–712K
16.
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
Genes (Basel) 2021 May; 12(5): 738. Published online 2021 May 13. doi: 10.3390/genes12050738
PMCID:
PMC8153584
AbstractArticlePDF–583K
17.
FMRP-dependent production of large dosage-sensitive proteins is highly conserved
Keegan Flanagan, Alireza Baradaran-Heravi, Qi Yin, Khanh Dao Duc, Allan C Spradling, Ethan J Greenblatt
Genetics. 2022 Aug; 221(4): iyac094. Published online 2022 Jun 22. doi: 10.1093/genetics/iyac094
PMCID:
PMC9339308
AbstractArticlePDF–1.4M
18.
The clinical spectrum of a nonsense mutation in KAT6A: a case report
Dongbo Wang, Jun He, Xueyi Li, Shuyuan Yan, Linglin Pan, Tuanmei Wang, Liangrong Zhou, Jiyang Liu, Xiangwen Peng
J Int Med Res. 2022 Dec; 50(12): 03000605221140304. Published online 2022 Dec 26. doi: 10.1177/03000605221140304
PMCID:
PMC9806384
AbstractArticlePDF–797K
19.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer L Howe, Emanuele Agolini, Domenico A Coviello, Ingrid van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia P Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoit Mazel, Hana Safraou, Anne-Sophie Denommé-Pichon, Marjon A van Slegtenhorst, Noor Giesbertz, Richard H van Jaarsveld, Anna Childers, R Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D Buxbaum, Stephen W Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco
Brain. 2023 Feb; 146(2): 534–548. Published online 2022 Jul 27. doi: 10.1093/brain/awac278
PMCID:
PMC10169411
AbstractArticlePDF–1.4M
20.
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Śmigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kaźmierczak, Rafał Płoski, Ewa Emich-Widera, Barbara Steinborn
Genes (Basel) 2023 May; 14(5): 972. Published online 2023 Apr 25. doi: 10.3390/genes14050972
PMCID:
PMC10217861
AbstractArticlePDF–263K

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