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Items: 1 to 20 of 30

1.
Unusual phenotypes in patients with a pathogenic germline variant in DICER1
Kateryna Venger, Miriam Elbracht, Julia Carlens, Peter Deutz, Felix Zeppernick, Lisa Lassay, Christian Kratz, Martin Zenker, Jung Kim, Douglas R. Stewart, Ilse Wieland, Kris Ann P. Schultz, Nicolaus Schwerk, Ingo Kurth, Udo Kontny
Fam Cancer. 2023; 22(4): 475–480. Published online 2021 Jul 31. doi: 10.1007/s10689-021-00271-z
PMCID:
PMC9743360
ArticlePDF–735K
2.
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome
Andres Ramirez-Martinez, Yichi Zhang, Marie-Jose van den Boogaard, John R. McAnally, Cristina Rodriguez-Caycedo, Andreas C. Chai, Francesco Chemello, Maarten P.G. Massink, Inge Cuppen, Martin G. Elferink, Robert J.J. van Es, Nard G. Janssen, Linda P.A.M. Walraven-van Oijen, Ning Liu, Rhonda Bassel-Duby, Richard H. van Jaarsveld, Eric N. Olson
J Clin Invest. 2022 Jun 1; 132(11): e159002. Published online 2022 Jun 1. doi: 10.1172/JCI159002
PMCID:
PMC9151691
ArticlePDF–3.1M
3.
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients
M. Mouillé, M. Rio, S. Breton, M. L. Piketty, A. Afenjar, J. Amiel, Y. Capri, A. Goldenberg, C. Francannet, C. Michot, C. Mignot, L. Perrin, C. Quelin, J. Van Gils, G. Barcia, V. Pingault, G. Maruani, E. Koumakis, V. Cormier-Daire
Orphanet J Rare Dis. 2022; 17: 100. Published online 2022 Mar 3. doi: 10.1186/s13023-022-02229-5
PMCID:
PMC8895909
ArticlePDF–940K
4.
Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes
Theodosia Bartzela, Björn Theuerkauf, Elisabeth Reichardt, Malte Spielmann, Charlotte Opitz
Clin Oral Investig. 2021; 25(9): 5531–5540. Published online 2021 Mar 24. doi: 10.1007/s00784-021-03863-2
PMCID:
PMC8370934
ArticlePDF–835K
5.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, Anupriya Kaur, Parneet Kaur, Rolph Pfundt, Hermine Veenstra-Knol, Grazia M.S. Mancini, Gerarda Cappuccio, Nicola Brunetti-Pierri, Fanny Kortüm, Maja Hempel, Jonas Denecke, Anna Lehman, CAUSES Study, Tjitske Kleefstra, Kyra E. Stuurman, Martina Wilke, Michelle L. Thompson, E. Martina Bebin, Emilia K. Bijlsma, Mariette J.V. Hoffer, Cacha Peeters-Scholte, Anne Slavotinek, William A. Weiss, Tiffany Yip, Ugur Hodoglugil, Amy Whittle, Janette diMonda, Juanita Neira, Sandra Yang, Amelia Kirby, Hailey Pinz, Rosan Lechner, Frank Sleutels, Ingo Helbig, Sarah McKeown, Katherine Helbig, Rebecca Willaert, Jane Juusola, Jennifer Semotok, Medard Hadonou, John Short, Genomics England Research Consortium, Naomi Yachelevich, Sajel Lala, Alberto Fernández-Jaen, Janvier Porta Pelayo, Chiara Klöckner, Susanne B. Kamphausen, Rami Abou Jamra, Maria Arelin, A. Micheil Innes, Anni Niskakoski, Sam Amin, Maggie Williams, Julie Evans, Sarah Smithson, Damian Smedley, Anna de Burca, Usha Kini, Martin B. Delatycki, Lyndon Gallacher, Alison Yeung, Lynn Pais, Michael Field, Ellenore Martin, Perrine Charles, Thomas Courtin, Boris Keren, Maria Iascone, Anna Cereda, Gemma Poke, Véronique Abadie, Christel Chalouhi, Padmini Parthasarathy, Benjamin J. Halliday, Stephen P. Robertson, Stanislas Lyonnet, Jeanne Amiel, Christopher T. Gordon
Am J Hum Genet. 2021 Jun 3; 108(6): 1138–1150. Published online 2021 Apr 27. doi: 10.1016/j.ajhg.2021.04.007
PMCID:
PMC8206162
ArticlePDF–3.0M
6.
Med23 Regulates Sox9 Expression during Craniofacial Development
S. Dash, S. Bhatt, K.T. Falcon, L.L. Sandell, P.A. Trainor
J Dent Res. 2021 Apr; 100(4): 406–414. Published online 2020 Nov 6. doi: 10.1177/0022034520969109
PMCID:
PMC7989139
ArticlePDF–4.0M
7.
Further Delineation of the Clinical Spectrum of KAT6B Disorders and Allelic Series of Pathogenic Variants
Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloes, Amelle G. Shillington, Kosuke Izumi, Alyssa L. Ritter, Beth Keena, Elaine Zackai, Dong Li, Elizabeth Bhoj, Jennifer M. Tarpinian, Emma Bedoukian, Mary K. Kukolich, A. Micheil Innes, Grace U. Ediae, Sarah L. Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R. Subbaraman, Frank J. Probst, Jennifer A. Bassetti, Reid V. Sutton, Richard A. Gibbs, Chester Brown, Philip M. Boone, Ingrid A. Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance F. Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan Patel, Ana Bracho, Francisco Cammarata-Scalisi, Alper Gezdirici, Alberto Fernandez-Jaen, Natalie Hauser, Yuri A. Zarate, Katherine A. Bosanko, Klaus Dieterich, John C. Carey, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Brendan H. Lee, Xiang-Jiao Yang, James R. Lupski, Philippe M. Campeau
Genet Med. Author manuscript; available in PMC 2020 Dec 15.
Published in final edited form as: Genet Med. 2020 Aug; 22(8): 1338–1347. Published online 2020 May 19. doi: 10.1038/s41436-020-0811-8
PMCID:
PMC7737399
ArticlePDF–1.2M
8.
A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report
Maoying Jiang, Shanlin Wang, Fei Li, Juan Geng, Yiting Ji, Ke Li, Xiaodong Jiang
Medicine (Baltimore) 2020 Nov 6; 99(45): e23033. Published online 2020 Nov 6. doi: 10.1097/MD.0000000000023033
PMCID:
PMC7647596
ArticlePDF–947K
9.
Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
Anudeep Yekula, Connor Grant, Mihir Gupta, David R. Santiago-Dieppa, Pate J. Duddleston, David Gonda, Michael Levy
Childs Nerv Syst. 2020; 36(7): 1367–1377. Published online 2020 May 12. doi: 10.1007/s00381-020-04642-2
PMCID:
PMC7300078
ArticlePDF–523K
10.
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome
Emily E. Miller, Gerson S. Kobayashi, Camila M. Musso, Miranda Allen, Felipe A.A. Ishiy, Luiz Carlos de Caires, Jr, Ernesto Goulart, Karina Griesi-Oliveira, Roseli M. Zechi-Ceide, Antonio Richieri-Costa, Debora R. Bertola, Maria Rita Passos-Bueno, Debra L. Silver
Hum Mol Genet. 2017 Jun 15; 26(12): 2177–2191. Published online 2017 Mar 2. doi: 10.1093/hmg/ddx078
PMCID:
PMC5731442
ArticlePDF–1.4M
11.
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration
Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones
BMC Med Genet. 2017; 18: 60. Published online 2017 Jun 2. doi: 10.1186/s12881-017-0426-3
PMCID:
PMC5455125
ArticlePDF–623K
12.
Disruption of the ERK/MAPK pathway in neural crest cells as a potential cause of Pierre Robin sequence
Carolina Parada, Dong Han, Alexandre Grimaldi, Patricia Sarrión, Shery S. Park, Richard Pelikan, Pedro A. Sanchez-Lara, Yang Chai
Development. 2015 Nov 1; 142(21): 3734–3745. doi: 10.1242/dev.125328
PMCID:
PMC4647211
Article
13.
Femoral–facial syndrome in an infant of a diabetic mother
Saleem Ahmed, Saad Abdullah Alsaedi, Heidi Al-Wassia, Jumana Yousef Al-Aama
BMJ Case Rep. 2015; 2015: bcr2014208857. Published online 2015 Jul 6. doi: 10.1136/bcr-2014-208857
PMCID:
PMC4493187
ArticlePDF–496K
14.
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence
Christopher T. Gordon, Catia Attanasio, Shipra Bhatia, Sabina Benko, Morad Ansari, Tiong Y. Tan, Arnold Munnich, Len A. Pennacchio, Véronique Abadie, I. Karen Temple, Alice Goldenberg, Veronica van Heyningen, Jeanne Amiel, David FitzPatrick, Dirk A. Kleinjan, Axel Visel, Stanislas Lyonnet
Hum Mutat. Author manuscript; available in PMC 2015 Aug 1.
Published in final edited form as: Hum Mutat. 2014 Aug; 35(8): 1011–1020. doi: 10.1002/humu.22606
PMCID:
PMC4389788
ArticlePDF–1.7M
15.
A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence
Zena T. Wolf, Elizabeth J. Leslie, Boaz Arzi, Kartika Jayashankar, Nili Karmi, Zhonglin Jia, Douglas J. Rowland, Amy Young, Noa Safra, Saundra Sliskovic, Jeffrey C. Murray, Claire M. Wade, Danika L. Bannasch
PLoS Genet. 2014 Apr; 10(4): e1004257. Published online 2014 Apr 3. doi: 10.1371/journal.pgen.1004257
PMCID:
PMC3974639
ArticlePDF–1.1M
16.
A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects
Francine P. Favaro, Lucas Alvizi, Roseli M. Zechi-Ceide, Debora Bertola, Temis M. Felix, Josiane de Souza, Salmo Raskin, Stephen R.F. Twigg, Andrea M.J. Weiner, Pablo Armas, Ezequiel Margarit, Nora B. Calcaterra, Gregers R. Andersen, Simon J. McGowan, Andrew O.M. Wilkie, Antonio Richieri-Costa, Maria L.G. de Almeida, Maria Rita Passos-Bueno
Am J Hum Genet. 2014 Jan 2; 94(1): 120–128. doi: 10.1016/j.ajhg.2013.11.020
PMCID:
PMC3882729
ArticlePDF–2.6M
17.
Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation
Yongbo Wang, Andreas Gogol-Döring, Hao Hu, Sebastian Fröhler, Yunxia Ma, Marvin Jens, Jonas Maaskola, Yasuhiro Murakawa, Claudia Quedenau, Markus Landthaler, Vera Kalscheuer, Dagmar Wieczorek, Yang Wang, Yuhui Hu, Wei Chen
EMBO Mol Med. 2013 Sep; 5(9): 1431–1442. Published online 2013 Aug 22. doi: 10.1002/emmm.201302663
PMCID:
PMC3799496
ArticlePDF–1.5M
18.
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature
Tom B Davidson, Pedro A Sanchez-Lara, Linda M Randolph, Mark D Krieger, Shi-Qi Wu, Ashok Panigrahy, Hiroyuki Shimada, Anat Erdreich-Epstein
BMC Med Genet. 2012; 13: 19. Published online 2012 Mar 22. doi: 10.1186/1471-2350-13-19
PMCID:
PMC3359208
ArticlePDF–2.5M
19.
New Syndrome: A Novel Multiple Congenital Anomaly-Mental Retardation Syndrome with Pierre Robin Sequence and Cerebellar Hypoplasia in Two Sisters
David A. Stevenson, John C. Carey
Am J Med Genet A. Author manuscript; available in PMC 2011 Dec 18.
Published in final edited form as: Am J Med Genet A. 2007 Oct 1; 143A(19): 2221–2226. doi: 10.1002/ajmg.a.31945
PMCID:
PMC3241992
ArticlePDF–1.0M
20.
Long Term Survival in TARP Syndrome and Confirmation of RBM10 as the Disease Causing Gene
Karen W. Gripp, Elizabeth Hopkins, Jennifer J. Johnston, Caitlin Krause, William B. Dobyns, Leslie G. Biesecker
Am J Med Genet A. Author manuscript; available in PMC 2012 Oct 1.
Published in final edited form as: Am J Med Genet A. 2011 Oct; 155(10): 2516–2520. Published online 2011 Sep 9. doi: 10.1002/ajmg.a.34190
PMCID:
PMC3183328
ArticlePDF–796K

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