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Items: 1 to 20 of 37

1.
An inherited TBX3 alteration in a prenatal case of ulnar‐mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster
Irene Bottillo, Andrea D'Alessandro, Maria Pia Ciccone, Gianluca Cestra, Gianluca Di Giacomo, Evelina Silvestri, Marco Castori, Francesco Brancati, Andrea Lenzi, Alessandro Paiardini, Silvia Majore, Giovanni Cenci, Paola Grammatico
J Cell Physiol. 2024 Dec; 239(12): e31440. Published online 2024 Sep 25. doi: 10.1002/jcp.31440
PMCID:
PMC11649972
AbstractArticlePDF–2.9M
2.
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock
J Med Genet. 2024 May; 61(5): 490–501. Published online 2024 Jan 31. doi: 10.1136/jmg-2023-109531
PMCID:
PMC11041601
AbstractArticlePDF–3.2M
3.
The Diagnostic Value of microRNA Expression Analysis in Detecting Intraductal Papillomas in Patients with Pathological Nipple Discharge
Seher Makineli, Menno R. Vriens, Arjen J. Witkamp, Paul J. van Diest, Cathy B. Moelans
Int J Mol Sci. 2024 Feb; 25(3): 1812. Published online 2024 Feb 2. doi: 10.3390/ijms25031812
PMCID:
PMC10855314
AbstractArticlePDF–563K
4.
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A
Anne Slavotinek, Mathilde Lefebvre, Anne-Claire Brehin, Christel Thauvin, Sophie Patrier, Teresa N. Sparks, Mary Norton, Jingwei Yu, Eric Huang
Eur J Med Genet. Author manuscript; available in PMC 2023 Feb 1.
Published in final edited form as: Eur J Med Genet. 2022 Feb; 65(2): 104407. Published online 2021 Dec 20. doi: 10.1016/j.ejmg.2021.104407
PMCID:
PMC9162882
AbstractArticlePDF–778K
5.
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz
Orphanet J Rare Dis. 2022; 17: 29. Published online 2022 Jan 31. doi: 10.1186/s13023-021-02068-w
PMCID:
PMC8802438
AbstractArticlePDF–2.3M
6.
Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review
Wen Qian, Meijie Zhang, Hequn Huang, Yihe Chen, Gajin Park, Ni Zeng, Yueyue Li, Qian Lu, Dan Luo
Mol Genet Genomic Med. 2021 Jun; 9(6): e1690. Published online 2021 May 1. doi: 10.1002/mgg3.1690
PMCID:
PMC8222857
AbstractArticlePDF–732K
7.
KCTD1 mutants in scalp-ear-nipple syndrome and AP-2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β-catenin signaling
Lingyu Hu, Li Chen, Liu Yang, Zi Ye, Wenhuan Huang, Xinxin Li, Qing Liu, Junlu Qiu, Xiaofeng Ding
Mol Med Rep. 2020 Nov; 22(5): 3895–3903. Published online 2020 Aug 24. doi: 10.3892/mmr.2020.11457
PMCID:
PMC7533495
AbstractArticlePDF–799K
8.
Phenotypic Expansion of KMT2D-Related Disorder: Beyond Kabuki Syndrome
Dustin Baldridge, Rebecca C. Spillmann, Daniel J. Wegner, Jennifer A. Wambach, Frances V. White, Kathleen Sisco, Tomi L. Toler, Patricia I. Dickson, F. Sessions Cole, Vandana Shashi, Dorothy K. Grange
Am J Med Genet A. Author manuscript; available in PMC 2021 May 1.
Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1053–1065. Published online 2020 Feb 21. doi: 10.1002/ajmg.a.61518
PMCID:
PMC7295006
AbstractArticlePDF–952K
9.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Lihadh Al-Gazali, Natalie Canham, Victor Faundes, Frances Flinter, Jozef Hertecant, Muriel Holder-Espinasse, Brian Jackson, Sally Ann Lynch, Fatima Nadat, Vagheesh M. Narasimhan, Michelle Peckham, Robert Sellers, Marco Seri, Francesca Montanari, Laura Southgate, Gabriella Maria Squeo, Richard Trembath, David van Heel, Santina Venuto, Daniel Weisberg, Karen Stals, Sian Ellard, Genomics England Research Consortium, Anne Barton, Susan J. Kimber, Eamonn Sheridan, Giuseppe Merla, Adam Stevens, Colin A. Johnson, Siddharth Banka
Genet Med. 2020; 22(5): 867–877. Published online 2020 Jan 17. doi: 10.1038/s41436-019-0743-3
Correction in:
Genet Med. 2020; 22(5): 980.
PMCID:
PMC7200597
AbstractArticlePDF–1.5M
10.
Efficient genome-wide first-generation phenotypic screening system in mice using the piggyBac transposon
Hao Chang, Yukun Pan, Sean Landrette, Sheng Ding, Dong Yang, Lufang Liu, Lei Tian, Hongyan Chai, Peining Li, Da-Ming Li, Tian Xu
Proc Natl Acad Sci U S A. 2019 Sep 10; 116(37): 18507–18516. Published online 2019 Aug 26. doi: 10.1073/pnas.1906354116
PMCID:
PMC6744845
AbstractArticlePDF–4.9M
11.
Mandibulofacial dysostosis with microcephaly: a syndrome to remember
Joana Brandão Silva, Diana Soares, Miguel Leão, Helena Santos
BMJ Case Rep. 2019; 12(8): e229831. Published online 2019 Aug 13. doi: 10.1136/bcr-2019-229831
PMCID:
PMC6700533
AbstractArticlePDF–266K
12.
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants
Giovanni Smaldone, Nicole Balasco, Luciano Pirone, Daniela Caruso, Sonia Di Gaetano, Emilia Maria Pedone, Luigi Vitagliano
Sci Rep. 2019; 9: 10519. Published online 2019 Jul 19. doi: 10.1038/s41598-019-46911-4
PMCID:
PMC6642198
AbstractArticlePDF–2.3M
13.
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Hauser, Murat Gunel, Hulya Kayserili, Miriam Schmidts
J Med Genet. 2019 May; 56(5): 332–339. Published online 2018 Nov 28. doi: 10.1136/jmedgenet-2018-105623
PMCID:
PMC6581149
AbstractArticlePDF–1.0M
14.
Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient
Irene Baquedano Lobera, Silvia Izquierdo Álvarez, María Jesús Oliván del Cacho
BMC Pediatr. 2019; 19: 92. Published online 2019 Apr 5. doi: 10.1186/s12887-019-1463-1
PMCID:
PMC6449997
AbstractArticlePDF–533K
15.
Barber Say Syndrome (A New Case Report)
Mehrdad Rezaei, Susan Zamani, Hourvash Haghighinejad
Indian Dermatol Online J. 2019 Mar-Apr; 10(2): 158–161. doi: 10.4103/idoj.IDOJ_68_18
PMCID:
PMC6434745
AbstractArticlePDF–1.2M
16.
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome
Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, Maria Teresa Bonati
Endocr Connect. 2018 Dec; 7(12): 1432–1441. Published online 2018 Nov 23. doi: 10.1530/EC-18-0486
PMCID:
PMC6300862
AbstractArticlePDF–2.5M
17.
The Phenotype of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1: Report and Review
Natario L. Couser, Maheer M. Masood, Natasha T. Strande, Ann Katherine M. Foreman, Kristy Crooks, Karen E. Weck, Mei Lu, Kirk C. Wilhelmsen, Myra Roche, James P. Evans, Jonathan S. Berg, Cynthia M. Powell
Am J Med Genet A. Author manuscript; available in PMC 2018 Aug 24.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 167A(9): 2176–2181. Published online 2015 Apr 29. doi: 10.1002/ajmg.a.37129
PMCID:
PMC6108425
AbstractArticlePDF–1.0M
18.
Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features
Nataliya Zelinska, Iryna Shevchenko, Evgenia Globa
J Clin Res Pediatr Endocrinol. 2018 Sep; 10(3): 256–263. Published online 2018 Jul 31. doi: 10.4274/jcrpe.5119
PMCID:
PMC6083464
AbstractArticlePDF–281K
19.
Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report
Ruo-hao Wu, Dong-fang Li, Wen-ting Tang, Kun-yin Qiu, Yu Li, Xiong-yu Liao, Dan-xia Tang, Li-jun Qin, Bing-qing Deng, Xiang-yang Luo
J Med Case Rep. 2018; 12: 17. Published online 2018 Jan 24. doi: 10.1186/s13256-017-1528-4
PMCID:
PMC5781283
AbstractArticlePDF–2.5M
20.
IMPLANT SUPPORTED PROSTHESIS IN A PATIENT WITH PROGERIA: CASE REPORT
Gözlem Ceylan, Nergiz Yılmaz, Özgün Şenyurt, Göknil Ergün Kunt
Bosn J Basic Med Sci. 2009 Aug; 9(3): 210–214. doi: 10.17305/bjbms.2009.2808
PMCID:
PMC5632504
AbstractArticlePDF–146K

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