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Items: 1 to 20 of 60

1.
SOFT syndrome with Kohlschutter–Tonz syndrome
SA Mondkar, V Khadilkar, P Kasegaonkar, A Khadilkar
J Postgrad Med. 2024 Jan-Mar; 70(1): 56–59. Published online 2023 Sep 7. doi: 10.4103/jpgm.jpgm_1001_22
PMCID:
PMC10947733
AbstractArticle
2.
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis
Hugo H. Abarca-Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Genes (Basel) 2023 Dec; 14(12): 2212. Published online 2023 Dec 14. doi: 10.3390/genes14122212
PMCID:
PMC10742884
AbstractArticlePDF–4.1M
3.
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
Neurogenetics. 2023; 24(3): 201–208. Published online 2023 Jun 8. doi: 10.1007/s10048-023-00722-y
Retraction in:
Neurogenetics. 2024; 25(1): 49.
PMCID:
PMC10319691
AbstractArticle
4.
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants
Dan Yan, Yu Sun, Na Xu, Yongguo Yu, Yongkun Zhan, the Mainland Chinese League of NEDSDV Rare Disease
Mol Genet Genomic Med. 2022 Nov; 10(11): e2067. Published online 2022 Sep 24. doi: 10.1002/mgg3.2067
PMCID:
PMC9651608
AbstractArticlePDF–1.8M
5.
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder
Gabriella Doddato, Alessandra Fabbiani, Valeria Scandurra, Roberto Canitano, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Genes (Basel) 2022 Apr; 13(4): 688. Published online 2022 Apr 14. doi: 10.3390/genes13040688
PMCID:
PMC9025881
AbstractArticlePDF–1.6M
6.
Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay
Timothy Tidwell, Malia Deshotel, Janice Palumbos, Chris Miller, Pinar Bayrak-Toydemir, John C. Carey
Cold Spring Harb Mol Case Stud. 2020 Dec; 6(6): a005728. doi: 10.1101/mcs.a005728
PMCID:
PMC7784487
AbstractArticlePDF–2.6M
7.
Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report
Shiqiu Xiong, Lanjun Shuai, Xiaoyan Li, Xiqiang Dang, Xiaochuan Wu, Qingnan He
BMC Nephrol. 2020; 21: 170. Published online 2020 May 11. doi: 10.1186/s12882-020-01809-6
PMCID:
PMC7216528
AbstractArticlePDF–1.0M
8.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Orphanet J Rare Dis. 2020; 15: 44. Published online 2020 Feb 10. doi: 10.1186/s13023-020-1317-9
PMCID:
PMC7011274
AbstractArticlePDF–1.9M
9.
Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome
Emanuele Micaglio, Andreea Alina Andronache, Paola Carrera, Michelle M. Monasky, Emanuela T. Locati, Barbara Pirola, Silvia Presi, Mario Carminati, Maurizio Ferrari, Alessandro Giamberti, Carlo Pappone
Int J Mol Sci. 2019 Dec; 20(24): 6247. Published online 2019 Dec 11. doi: 10.3390/ijms20246247
PMCID:
PMC6940840
AbstractArticlePDF–2.2M
10.
An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
Cinthya J. Zepeda-Mendoza, Margot A. Cousin, Shubham Basu, Garrett Jenkinson, Gavin Oliver, Siobhan T. Pittock, Linda B. Baughn, Eric W. Klee, Dusica Babovic-Vuksanovic
Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004655. doi: 10.1101/mcs.a004655
PMCID:
PMC6913153
AbstractArticlePDF–3.0M
11.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Scott Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Jean-Francois Theroux, Malvin Jefri, Arnaud Tanti, Hanrong Wu, Ilaria Kolobova, Heika Silviera, Karla Manzano-Vargas, Sophie Ehresmann, Fadi F. Hamdan, Nuwan Hettige, Xin Zhang, Lilit Antonyan, Christina Nassif, Lina Ghaloul-Gonzalez, Jessica Sebastian, Jerry Vockley, Amber G. Begtrup, Ingrid M. Wentzensen, Amy Crunk, Robert D. Nicholls, Kristin C. Herman, Joshua L. Deignan, Walla Al-Hertani, Stephanie Efthymiou, Vincenzo Salpietro, Noriko Miyake, Yoshio Makita, Naomichi Matsumoto, Rune Østern, Gunnar Houge, Maria Hafström, Emily Fassi, Henry Houlden, Jolien S. Klein Wassink-Ruiter, Dominic Nelson, Amy Goldstein, Tabib Dabir, Julien van Gils, Thomas Bourgeron, Richard Delorme, Gregory M. Cooper, Jose E. Martinez, Candice R. Finnila, Lionel Carmant, Anne Lortie, Renske Oegema, Koen van Gassen, Sarju G. Mehta, Dagmar Huhle, Rami Abou Jamra, Sonja Martin, Han G. Brunner, Dick Lindhout, Margaret Au, John M. Graham, Jr., Christine Coubes, Gustavo Turecki, Simon Gravel, Naguib Mechawar, Elsa Rossignol, Jacques L. Michaud, Julie Lessard, Carl Ernst, Philippe M. Campeau
Am J Hum Genet. 2019 May 2; 104(5): 815–834. Published online 2019 Apr 25. doi: 10.1016/j.ajhg.2019.03.022
PMCID:
PMC6507050
AbstractArticlePDF–4.6M
12.
Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain
Anara Karaca, Monica Reyes, Lauren T. Shumate, Isilay Taskaldiran, Tulay Omma, Nese Ersoz Gulcelik, Murat Bastepe
Bone. Author manuscript; available in PMC 2020 Jun 1.
Published in final edited form as: Bone. 2019 Jun; 123: 153–158. Published online 2019 Mar 23. doi: 10.1016/j.bone.2019.03.028
PMCID:
PMC6506180
AbstractArticlePDF–1.0M
13.
An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Giulia Trippella, Paolo Lionetti, Sara Naldini, Francesca Peluso, Matteo Della Monica, Stefano Stagi
Ital J Pediatr. 2018; 44: 138. Published online 2018 Nov 20. doi: 10.1186/s13052-018-0580-z
PMCID:
PMC6245908
AbstractArticlePDF–1.9M
14.
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou
Orphanet J Rare Dis. 2017; 12: 172. Published online 2017 Nov 2. doi: 10.1186/s13023-017-0721-2
PMCID:
PMC5669016
AbstractArticlePDF–4.7M
15.
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
Concetta Cafiero, Giuseppe Marangi, Daniela Orteschi, Marwan Ali, Alessia Asaro, Emanuela Ponzi, Alice Moncada, Stefania Ricciardi, Marina Murdolo, Giorgia Mancano, Ilaria Contaldo, Vincenzo Leuzzi, Domenica Battaglia, Eugenio Mercuri, Anne M Slavotinek, Marcella Zollino
Eur J Hum Genet. 2015 Oct; 23(11): 1499–1504. Published online 2015 Feb 25. doi: 10.1038/ejhg.2015.19
PMCID:
PMC4613466
AbstractArticlePDF–695K
16.
Recurrent HERV-H-Mediated 3q13.2q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
Andrey Shuvarikov, Ian M. Campbell, Piotr Dittwald, Nicholas J. Neill, Martin G. Bialer, Christine Moore, Patricia G. Wheeler, Stephanie E. Wallace, Mark C. Hannibal, Michael F. Murray, Monica A. Giovanni, Deborah Terespolsky, Sandi Sodhi, Matteo Cassina, David Viskochil, Billur Moghaddam, Kristin Herman, Chester Brown, Anna Gambin, Sau Wai Cheung, Ankita Patel, Allen N. Lamb, Lisa G. Shaffer, Jay W. Ellison, J. Britt Ravnan, Paweł Stankiewicz, Jill A. Rosenfeld
Hum Mutat. Author manuscript; available in PMC 2015 Oct 9.
Published in final edited form as: Hum Mutat. 2013 Oct; 34(10): 1415–1423. Published online 2013 Aug 13. doi: 10.1002/humu.22384
PMCID:
PMC4599348
AbstractArticlePDF–784K
17.
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G Kant, Elizabeth A Jones, Han G Brunner, Rosa LE van Loon, Eric EJ Smeets, Mieke M van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniene, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas JJ Maal, Celeste C van Heumen, Helger G Yntema, Carine EL Carels, Tjitske Kleefstra
Eur J Hum Genet. 2015 Sep; 23(9): 1176–1185. Published online 2014 Nov 26. doi: 10.1038/ejhg.2014.253
Correction in:
Eur J Hum Genet. 2015 Sep; 23(9): 1270.
PMCID:
PMC4538199
AbstractArticlePDF–1.9M
18.
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling
Carole Corsini, Martin Gencik, Marjolaine Willems, Eva Decker, Elodie Sanchez, Jacques Puechberty, Anouck Schneider, Manon Girard, Patrick Edery, Patricia Bretonnes, Jérôme Cottalorda, Geneviève Lefort, Claire Jeandel, Pierre Sarda, David Genevieve
Eur J Hum Genet. 2014 Jan; 22(1): 136–139. Published online 2013 Apr 10. doi: 10.1038/ejhg.2013.56
PMCID:
PMC3865400
AbstractArticlePDF–1.2M
19.
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
Christian Wentzel, Evica Rajcan-Separovic, Claudia A L Ruivenkamp, Sandra Chantot-Bastaraud, Corinne Metay, Joris Andrieux, Göran Annerén, Antoinet C J Gijsbers, Luc Druart, Capucine Hyon, Marie-France Portnoi, Eva-Lena Stattin, Catherine Vincent-Delorme, Sarina G Kant, Michelle Steinraths, Sandrine Marlin, Irina Giurgea, Ann-Charlotte Thuresson
Eur J Hum Genet. 2011 Sep; 19(9): 959–964. Published online 2011 Apr 27. doi: 10.1038/ejhg.2011.71
PMCID:
PMC3179368
AbstractArticlePDF–346K
20.
Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25
Deepika D’Cunha Burkardt, Jill A. Rosenfeld, Maria Helgeson, Brad Angle, Valerie Banks, Wendy Smith, Karen W. Gripp, Jessica Moline, Rocio Moran, Dmitriy M. Niyazov, Cathy Stevens, Elaine Zackai, Robert Roger Lebel, Douglas Ashley, Nancy Kramer, Ralph S. Lachman, John M. Graham, Jr.
Am J Med Genet A. Author manuscript; available in PMC 2012 Jun 1.
Published in final edited form as: Am J Med Genet A. 2011 Jun; 155(6): 1336–1351. Published online 2011 May 5. doi: 10.1002/ajmg.a.34049
PMCID:
PMC3109510
AbstractArticlePDF–4.1M

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