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Select item 104626811.

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

Marion Masingue, Olivia Cattaneo, Nicolas Wolff, Céline Buon, Damien Sternberg, Morgane Euchparmakian, Myriam Boex, Anthony Behin, Kamel Mamchaouhi, Thierry Maisonobe, Marie-Christine Nougues, Arnaud Isapof, Bertrand Fontaine, Julien Messéant, Bruno Eymard, Laure Strochlic, Stéphanie Bauché

Sci Rep. 2023; 13: 14054. Published online 2023 Aug 28. doi: 10.1038/s41598-023-41008-5

PMCID:: PMC10462681

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Select item 97935302.

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

Tomomi Kotani, Hiroyuki Tsuda, Yumiko Ito, Noriyuki Nakamura, Takafumi Ushida, Kenji Imai, Yukako Iitani, Kazuya Fuma, Yukako Muramatsu, Masahiro Hayakawa, Hiroaki Kajiyama

J Med Case Rep. 2022; 16: 481. Published online 2022 Dec 27. doi: 10.1186/s13256-022-03713-z

PMCID:: PMC9793530

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Select item 97777463.

Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome

Qiwei Wang, Tingfeng Qin, Xun Wang, Jing Li, Xiaoshan Lin, Dongni Wang, Zhuoling Lin, Xulin Zhang, Xiaoyan Li, Haotian Lin, Weirong Chen

Genes (Basel) 2022 Dec; 13(12): 2364. Published online 2022 Dec 14. doi: 10.3390/genes13122364

PMCID:: PMC9777746

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Select item 89229544.

Identification of a novel microdeletion causative of Nance‐Horan syndrome

Mariana Lopez Martinolich, Hope Northrup, Pedro Mancias, Paul Hillman, Kavya Rao, Kate Mowrey

Mol Genet Genomic Med. 2022 Mar; 10(3): e1879. Published online 2022 Feb 5. doi: 10.1002/mgg3.1879

PMCID:: PMC8922954

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Select item 88717555.

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

Simonetta Rosato, Sheila Unger, Belinda Campos-Xavier, Stefano Giuseppe Caraffi, Laura Beltrami, Marzia Pollazzon, Ivan Ivanovski, Marco Castori, Maria Paola Bonasoni, Giuseppina Comitini, Peter G. J. Nikkels, Kristin Lindstrom, Christine Umandap, Andrea Superti-Furga, Livia Garavelli

Genes (Basel) 2022 Feb; 13(2): 261. Published online 2022 Jan 28. doi: 10.3390/genes13020261

PMCID:: PMC8871755

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Select item 84576926.

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event

Verónica Fabiola Morán‐Barroso, Alicia Cervantes, María del Refugio Rivera‐Vega, Adriana del Castillo‐Moreno, Alejandra Moreno‐Chacón, Estefanía Mejía‐Cauich, Laura Eréndira Contreras‐Ortiz, Fernando Fernández‐Ramírez

Mol Genet Genomic Med. 2021 Sep; 9(9): e1762. Published online 2021 Jul 20. doi: 10.1002/mgg3.1762

PMCID:: PMC8457692

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Select item 82868257.

SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization

Alexandra D. Gurzau, Christopher R. Horne, Yee-Foong Mok, Megan Iminitoff, Tracy A. Willson, Samuel N. Young, Marnie E. Blewitt, James M. Murphy

Biochem J. 2021 Jul 16; 478(13): 2555–2569. Prepublished online 2021 Jun 10. Published online 2021 Jul 9. doi: 10.1042/BCJ20210278

PMCID:: PMC8286825

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Select item 76780488.

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

Anna Zlotina, Olesia Melnik, Yulia Fomicheva, Rostislav Skitchenko, Alexey Sergushichev, Elena Shagimardanova, Oleg Gusev, Guzel Gazizova, Tatiana Loevets, Tatiana Vershinina, Ivan Kozyrev, Mikhail Gordeev, Elena Vasichkina, Tatiana Pervunina, Anna Kostareva

BMC Med Genomics. 2020; 13: 175. Published online 2020 Nov 20. doi: 10.1186/s12920-020-00821-x

PMCID:: PMC7678048

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Select item 70571109.

Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing

Shumin Ren, Xiaojie Chen, Xiangdong Kong, Yibing Chen, Qinghua Wu, Zhihui Jiao, Huirong Shi

Mol Genet Genomic Med. 2020 Mar; 8(3): e1128. Published online 2020 Jan 20. doi: 10.1002/mgg3.1128

PMCID:: PMC7057110

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Select item 577744910.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J. Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michaël Wiederkehr, Caroline F. Wright, DDD Study, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M. Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond

Am J Hum Genet. 2018 Jan 4; 102(1): 116–132. Published online 2017 Dec 28. doi: 10.1016/j.ajhg.2017.12.002

PMCID:: PMC5777449

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Select item 560121211.

SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Rita Giglio, Patrizia Morbini, Orsetta Zuffardi

J Pathol. 2017 Sep; 243(1): 9–15. Published online 2017 Jul 25. doi: 10.1002/path.4926

PMCID:: PMC5601212

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Select item 511751212.

Benign clear cell “sugar” tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report

Yoko Gunji-Niitsu, Toshio Kumasaka, Shigehiro Kitamura, Yoshito Hoshika, Takuo Hayashi, Hitoshi Tokuda, Riichiro Morita, Etsuko Kobayashi, Keiko Mitani, Mika Kikkawa, Kazuhisa Takahashi, Kuniaki Seyama

BMC Med Genet. 2016; 17: 85. Published online 2016 Nov 21. doi: 10.1186/s12881-016-0350-y

PMCID:: PMC5117512

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Select item 506977413.

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

Lianhua Sun, Xiaohua Li, Jun Shi, Xiuhong Pang, Yechen Hu, Xiaowen Wang, Hao Wu, Tao Yang

Sci Rep. 2016; 6: 35498. Published online 2016 Oct 19. doi: 10.1038/srep35498

PMCID:: PMC5069774

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Select item 490821914.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

Stephen R.F. Twigg, Robert B. Hufnagel, Kerry A. Miller, Yan Zhou, Simon J. McGowan, John Taylor, Jude Craft, Jenny C. Taylor, Stephanie L. Santoro, Taosheng Huang, Robert J. Hopkin, Angela F. Brady, Jill Clayton-Smith, Carol L. Clericuzio, Dorothy K. Grange, Leopold Groesser, Christian Hafner, Denise Horn, I. Karen Temple, William B. Dobyns, Cynthia J. Curry, Marilyn C. Jones, Andrew O.M. Wilkie

Am J Hum Genet. 2016 Jun 2; 98(6): 1256–1265. Published online 2016 May 26. doi: 10.1016/j.ajhg.2016.04.007

PMCID:: PMC4908219

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Select item 480258315.

Glomerulopathy in patients with distal duplication of chromosome 6p

Augustina Jankauskienė, Magdalena Koczkowska, Anna Bjerre, Joanna Bernaciak, Franz Schaefer, Beata S. Lipska-Ziętkiewicz

BMC Nephrol. 2016; 17: 32. Published online 2016 Mar 21. doi: 10.1186/s12882-016-0246-2

Correction in:: BMC Nephrol. 2016; 17: 43.

PMCID:: PMC4802583

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Select item 476895416.

Clinical and genetic investigation of families with type II Waardenburg syndrome

YONG CHEN, FUWEI YANG, HEXIN ZHENG, JIANDA ZHOU, GANGHUA ZHU, PENG HU, WEIJING WU

Mol Med Rep. 2016 Mar; 13(3): 1983–1988. Published online 2016 Jan 13. doi: 10.3892/mmr.2016.4774

PMCID:: PMC4768954

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Select item 438806017.

Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalamia in humans and mice

K Saidas Nair, Mounira Hmani-Aifa, Zain Ali, Alison L Kearney, Salma Ben Salem, Danilo G Macalinao, Ioan M Cosma, Walid Bouassida, Bochra Hakim, Zeineb Benzina, Ileana Soto, Peter Söderkvist, Gareth R Howell, Richard S Smith, Hammadi Ayadi, Simon W M John

Nat Genet. Author manuscript; available in PMC 2015 Apr 7.

Published in final edited form as: Nat Genet. 2011 Jun; 43(6): 579–584. Published online 2011 May 1. doi: 10.1038/ng.813

PMCID:: PMC4388060

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Select item 423706418.

Array Comparative Genomic Hybridization (aCGH) Analysis in Patients with Anophthalmia, Microphthalmia and Coloboma

Gordana Raca, Craig A. Jackson, Laimutis Kucinskas, Berta Warman, Joseph T. C. Shieh, Adele Schneider, Tanya M. Bardakjian, Lisa A. Schimmenti

Genet Med. Author manuscript; available in PMC 2014 Nov 19.

Published in final edited form as: Genet Med. 2011 May; 13(5): 437–442. doi: 10.1097/GIM.0b013e318204cfd2

PMCID:: PMC4237064

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Select item 421471219.

Gene Profiling of Postnatal Mfrp^rd6 Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs

Ramani Soundararajan, Jungyeon Won, Timothy M. Stearns, Jeremy R. Charette, Wanda L. Hicks, Gayle B. Collin, Jürgen K. Naggert, Mark P. Krebs, Patsy M. Nishina

PLoS One. 2014; 9(10): e110299. Published online 2014 Oct 30. doi: 10.1371/journal.pone.0110299

PMCID:: PMC4214712

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Select item 341054520.

Effects of early postnatal exposure to ethanol on retinal ganglion cell morphology and numbers of neurons in the dorsolateral geniculate in mice

Ilknur Dursun, Ewa Jakubowska-Doğru, Deborah van der List, Lauren C. Liets, Julie L. Coombs, Robert F. Berman

Alcohol Clin Exp Res. Author manuscript; available in PMC 2012 Nov 1.

Published in final edited form as: Alcohol Clin Exp Res. 2011 Nov; 35(11): 2063–2074. Published online 2011 Jun 8. doi: 10.1111/j.1530-0277.2011.01557.x

PMCID:: PMC3410545

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