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Items: 1 to 20 of 26

1.
Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population
Kai Yang, Li‐Man Fu, Xiao‐Yang Chu, Jing Zhang, Wen‐Qi Chen, You‐Sheng Yan, Yi‐Peng Wang, Dong‐Liang Zhang, Cheng‐Hong Yin, Qing Guo
Mol Genet Genomic Med. 2023 Jul; 11(7): e2186. Published online 2023 Apr 30. doi: 10.1002/mgg3.2186
PMCID:
PMC10337272
ArticlePDF–1.8M
2.
ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome
Graeme E. Glass, Justine O'Hara, Natalie Canham, Deirdre Cilliers, David Dunaway, Aimee L. Fenwick, Noor‐Owase Jeelani, David Johnson, Tracy Lester, Helen Lord, Jenny E. V. Morton, Hiroshi Nishikawa, Peter Noons, Kemmy Schwiebert, Caroleen Shipster, Alison Taylor‐Beadling, Stephen R. F. Twigg, Pradeep Vasudevan, Steven A. Wall, Andrew O. M. Wilkie, Louise C. Wilson
Am J Med Genet A. 2019 Apr; 179(4): 615–627. Published online 2019 Feb 13. doi: 10.1002/ajmg.a.61073
PMCID:
PMC6491982
ArticlePDF–1.7M
3.
Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity
Altuğ Koç, S. Ödül Onur, Mehmet Ali Ergün, E. Ferda Perçin
Asian J Androl. 2009 Sep; 11(5): 617–622. Published online 2009 Aug 24. doi: 10.1038/aja.2009.37
PMCID:
PMC3735005
ArticlePDF–446K
4.
Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasia.
Rui G. Rodrigues
J Natl Med Assoc. 2005 Jan; 97(1): 99–101.
PMCID:
PMC2568569
SummaryPage BrowsePDF–1.0M
5.
Is geroderma osteodysplastica underdiagnosed?
A G Hunter
J Med Genet. 1988 Dec; 25(12): 854–857. doi: 10.1136/jmg.25.12.854
PMCID:
PMC1051618
SummaryPage BrowsePDF–1.0M
6.
Autosomal recessive inheritance of Nager acrofacial dysostosis.
J Chemke, B M Mogilner, I Ben-Itzhak, L Zurkowski, D Ophir
J Med Genet. 1988 Apr; 25(4): 230–232. doi: 10.1136/jmg.25.4.230
PMCID:
PMC1015502
SummaryPage BrowsePDF–861K
7.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard
J Med Genet. 2023 Oct; 60(10): 1026–1034. Published online 2023 May 16. doi: 10.1136/jmg-2023-109223
PMCID:
PMC10579516
ArticlePDF–669K
8.
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method
Konstantinia Almpani, Denise K. Liberton, Priyam Jani, Cyrus Keyvanfar, Rashmi Mishra, Natasha Curry, Pamela Orzechowski, Pamela A. Frischmeyer-Guerrerio, Janice S. Lee
J Med Genet. 2022 Oct; 59(10): 938–946. Published online 2021 Dec 16. doi: 10.1136/jmedgenet-2021-107695
PMCID:
PMC9554024
ArticlePDF–2.8M
9.
Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report
Katina Kartalias, Austin P. Gillies, Maria T. Peña, Andrea Estrada, Dorothy I. Bulas, Carlos R. Ferreira, Laura L. Tosi
BMC Med Genet. 2020; 21: 189. Published online 2020 Sep 29. doi: 10.1186/s12881-020-01127-6
PMCID:
PMC7526353
ArticlePDF–4.7M
10.
Three rare disease diagnoses in one patient through exome sequencing
Alejandro Ferrer, Laura Schultz-Rogers, Charu Kaiwar, Jennifer L. Kemppainen, Eric W. Klee, Ralitza H. Gavrilova
Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004390. doi: 10.1101/mcs.a004390
PMCID:
PMC6913146
ArticlePDF–1.1M
11.
Rhombencephalosynapsis: Fused cerebellum, confused geneticists
Kimberly A. Aldinger, Jennifer C. Dempsey, Hannah M. Tully, Megan E. Grout, Michele G. Mehaffey, William B. Dobyns, Dan Doherty
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2019 May 29.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2018 Dec; 178(4): 432–439. doi: 10.1002/ajmg.c.31666
PMCID:
PMC6540982
ArticlePDF–523K
12.
Pathogenic Variants in GPC4 Cause Keipert Syndrome
David J. Amor, Sarah E.M. Stephenson, Mirna Mustapha, Martin A. Mensah, Charlotte W. Ockeloen, Wei Shern Lee, Rick M. Tankard, Dean G. Phelan, Marwan Shinawi, Arjan P.M. de Brouwer, Rolph Pfundt, Cari Dowling, Tomi L. Toler, V. Reid Sutton, Emanuele Agolini, Martina Rinelli, Rossella Capolino, Diego Martinelli, Giuseppe Zampino, Miroslav Dumić, William Reardon, Charles Shaw-Smith, Richard J. Leventer, Martin B. Delatycki, Tjitske Kleefstra, Stefan Mundlos, Geert Mortier, Melanie Bahlo, Nicola J. Allen, Paul J. Lockhart
Am J Hum Genet. 2019 May 2; 104(5): 914–924. Published online 2019 Apr 11. doi: 10.1016/j.ajhg.2019.02.026
PMCID:
PMC6507040
ArticlePDF–1.6M
13.
Williams-Beuren Syndrome in Diverse Populations
Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary TK Mok, Cedrik Tekendo-Ngongang, Karen Fieggen, E.J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Luk Ho-Ming, Ivan FM Lo, Meow-Keong Thong, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H.W. Dissanayake, C. Sampath Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni-Chung Lee, Saumya S. Jamuar, Angeline Lai, Tan Ee Shien, Jiin Ying Lim, Cham Breana Wen-Min, Neerja Gupta, Stephanie Lotz-Esquivel, Ramsés Badilla-Porras, Dalia Farouk Hussen, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregon, Brian H.Y. Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca Barriga, Andre Megarbane, Beth A. Kozel, Mieke M. van Haelst, Roger E. Stevenson, Marshall Summar, Adeyemo A. Adebowale, Colleen A. Morris, Danilo Moretti-Ferreira, Marius George Linguraru, Maximilian Muenke
Am J Med Genet A. Author manuscript; available in PMC 2019 May 1.
Published in final edited form as: Am J Med Genet A. 2018 May; 176(5): 1128–1136. doi: 10.1002/ajmg.a.38672
PMCID:
PMC6007881
ArticlePDF–932K
14.
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
Yousuke Higuchi, Kosei Hasegawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara
J Med Case Rep. 2017; 11: 237. Published online 2017 Aug 26. doi: 10.1186/s13256-017-1396-y
PMCID:
PMC5574094
ArticlePDF–2.2M
15.
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling
Margot A. Cousin, Michael T. Zimmermann, Angela J. Mathison, Patrick R. Blackburn, Nicole J. Boczek, Gavin R. Oliver, Gwen A. Lomberk, Raul A. Urrutia, David R. Deyle, Eric W. Klee
Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001727. doi: 10.1101/mcs.a001727
PMCID:
PMC5495030
ArticlePDF–1.7M
16.
Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report
Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BMC Med Genet. 2016; 17: 96. Published online 2016 Dec 12. doi: 10.1186/s12881-016-0357-4
PMCID:
PMC5153895
ArticlePDF–1015K
17.
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome
Gustavo H Vieira, Jayson D Rodriguez, Paulina Carmona-Mora, Lei Cao, Bruno F Gamba, Daniel R Carvalho, Andréa de Rezende Duarte, Suely R Santos, Deise H de Souza, Barbara R DuPont, Katherina Walz, Danilo Moretti-Ferreira, Anand K Srivastava
Eur J Hum Genet. 2012 Feb; 20(2): 148–154. Published online 2011 Sep 7. doi: 10.1038/ejhg.2011.167
PMCID:
PMC3260931
ArticlePDF–511K
18.
Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation
Simon K. Law, Maha Sami, Natik Piri, Anne L. Coleman, Joseph Caprioli
Mol Vis. 2011; 17: 1231–1238. Published online 2011 May 6.
PMCID:
PMC3102021
ArticlePDF–1.3M
19.
Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development
Zsolt Urban, Vishwanathan Hucthagowder, Nura Schürmann, Vesna Todorovic, Lior Zilberberg, Jiwon Choi, Carla Sens, Chester W. Brown, Robin D. Clark, Kristen E. Holland, Michael Marble, Lynn Y. Sakai, Branka Dabovic, Daniel B. Rifkin, Elaine C. Davis
Am J Hum Genet. 2009 Nov 13; 85(5): 593–605. doi: 10.1016/j.ajhg.2009.09.013
PMCID:
PMC2775835
ArticlePDF–1.3M
20.
Clinical and molecular genetics of Stickler syndrome
M. Snead, J. Yates
J Med Genet. 1999 May; 36(5): 353–359.
PMCID:
PMC1734362
SummaryPDF–169K

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