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Items: 1 to 20 of 25

1.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome
Jennifer J. Johnston, Chanjae Lee, Ingrid M. Wentzensen, Melissa A. Parisi, Molly M. Crenshaw, Julie C. Sapp, Jeffrey M. Gross, John B. Wallingford, Leslie G. Biesecker
Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001321. doi: 10.1101/mcs.a001321
PMCID:
PMC5495032
ArticlePubReaderPDF–1.1MCite
2.
Regulation of the limb shape during the development of the Chinese softshell turtles
Ingrid R. Cordeiro, Reiko Yu, Mikiko Tanaka
Evol Dev. 2020 Nov; 22(6): e12352. Published online 2020 Sep 9. doi: 10.1111/ede.12352
PMCID:
PMC7757393
ArticlePubReaderPDF–7.4MCite
3.
Brachysyndactyly in Poland Syndrome
Pratyush Shahi, Apoorv Sehgal, Ahmer Zafar, Aarushi Sudan, Vishali Moond
Cureus. 2020 Aug; 12(8): e9755. Published online 2020 Aug 15. doi: 10.7759/cureus.9755
PMCID:
PMC7489763
ArticlePubReaderPDF–411KCite
4.
A case report of Poland Syndrome with Absent Limb Anomalies
Abhinav D Jogani, Prakash K George, Nandan A Marathe, Swapneel S Shah, Jigar R Desai
J Orthop Case Rep. 2019; 9(4): 3–5. doi: 10.13107/jocr.2019.v09i04.1452
PMCID:
PMC7210921
ArticlePubReaderPDF–1.1MCite
5.
Emergent Spatial Patterns of Excitatory and Inhibitory Synaptic Strengths Drive Somatotopic Representational Discontinuities and their Plasticity in a Computational Model of Primary Sensory Cortical Area 3b
Kamil A. Grajski
Front Comput Neurosci. 2016; 10: 72. Published online 2016 Jul 25. doi: 10.3389/fncom.2016.00072
PMCID:
PMC4958931
ArticlePubReaderPDF–7.0MCite
6.
Clinical spectrum of Silver - Russell syndrome
Sapna N.K. Varma, Balagopal R. Varma
Contemp Clin Dent. 2013 Jul-Sep; 4(3): 363–365. doi: 10.4103/0976-237X.118346
PMCID:
PMC3793561
ArticlePubReaderPDF–1.2MCite
7.
Somatosensory cortical plasticity in adult humans revealed by magnetoencephalography.
A Mogilner, J A Grossman, U Ribary, M Joliot, J Volkmann, D Rapaport, R W Beasley, R R Llinás
Proc Natl Acad Sci U S A. 1993 Apr 15; 90(8): 3593–3597. doi: 10.1073/pnas.90.8.3593
PMCID:
PMC46347
SummaryPage BrowsePDF–1.8MCite
8.
A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1
Bibi Hajra, Abdullah, Nousheen Bibi, Fibhaa Syed, Asmat Ullah, Wasim Ahmad, Umm-e-Kalsoom
An Bras Dermatol. 2023 Sep-Oct; 98(5): 580–586. Published online 2023 May 12. doi: 10.1016/j.abd.2022.07.009
PMCID:
PMC10404504
ArticlePubReaderPDF–2.3MCite
9.
A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes
Alya A. Al-Kurbi, Elbay Aliyev, Sana AlSa’afin, Waleed Aamer, Sasirekha Palaniswamy, Aljazi Al-Maraghi, Houda Kilani, Ammira Al-Shabeeb Akil, Mitchell A. Stotland, Khalid A. Fakhro
Genes (Basel) 2023 Apr; 14(4): 849. Published online 2023 Mar 31. doi: 10.3390/genes14040849
PMCID:
PMC10137688
ArticlePubReaderPDF–2.5MCite
10.
Triphalangeal thump, thumb duplication, and syndactyly: The first case report in the literature
Sarya Swed, Abdulqadir J. Nashwan, Hiba Haj Saleh, Yamane Chawa, Alaa Baria, Aladdin Etr
Medicine (Baltimore) 2022 Oct 21; 101(42): e31237. Published online 2022 Oct 21. doi: 10.1097/MD.0000000000031237
PMCID:
PMC9592472
ArticlePubReaderPDF–421KCite
11.
A new golden species of Diasporus (Anura: Eleutherodactylidae) from southwestern Colombia, with evaluation of the phylogenetic significance of morphological characters in Diasporus
Jhon Jairo Ospina Sarria, David Andrés Velásquez Trujillo, Christian Oswaldo Castaño Saavedra, Luis Fernando Castillo, Wilmar Bolívar-García
PeerJ. 2022; 10: e12765. Published online 2022 Feb 8. doi: 10.7717/peerj.12765
PMCID:
PMC8833226
ArticlePubReaderPDF–42MCite
12.
Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review
Roberta Rotunno, Andrea Diociaiuti, Maria Lisa Dentici, Martina Rinelli, Michele Callea, Chiara Retrosi, Giovanna Zambruno, Emanuele Bellacchio, May El Hachem
Genes (Basel) 2021 May; 12(5): 748. Published online 2021 May 17. doi: 10.3390/genes12050748
PMCID:
PMC8156511
ArticlePubReaderPDF–2.9MCite
13.
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants
Kirsten E. Craddock, Volkan Okur, Ashley Wilson, Erica H. Gerkes, Keri Ramsey, Jennifer M. Heeley, Jane Juusola, Antonio Vitobello, Marie-Noelle Bonnet Dupeyron, Laurence Faivre, Wendy K. Chung
Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004200. doi: 10.1101/mcs.a004200
PMCID:
PMC6672026
ArticlePubReaderPDF–2.7MCite
14.
Lethal multiple pterygium syndrome
Farzeen Shuaib Mohtisham, Adel Sallam, Aiman Shawli
BMJ Case Rep. 2019; 12(5): e229045. Published online 2019 May 8. doi: 10.1136/bcr-2018-229045
PMCID:
PMC6506140
ArticlePubReaderPDF–852KCite
15.
A new species of the genus Leptolalax (Anura: Megophryidae) from southern Vietnam
Tang Van Duong, Dang Trong Do, Chung Dac Ngo, Truong Quang Nguyen, Nikolay A. Poyarkov, Jr.
Zool Res. 2018 May 18; 39(3): 185–201. Published online 2018 Apr 28. doi: 10.24272/j.issn.2095-8137.2018.009
PMCID:
PMC5968861
ArticlePubReaderPDF–8.1MCite
16.
A new species of the genus Theloderma Tschudi, 1838 (Amphibia: Anura: Rhacophoridae) from Tay Nguyen Plateau, central Vietnam
Nikolay A. Poyarkov, Jr., Ivan I. Kropachev, Svetlana S. Gogoleva, Nikolai L. Orlov
Zool Res. 2018 May 18; 39(3): 158–184. Published online 2018 Apr 28. doi: 10.24272/j.issn.2095-8137.2018.018
PMCID:
PMC5968860
ArticlePubReaderPDF–25MCite
17.
Cooperation of BMP and IHH signaling in interdigital cell fate determination
Arunima Murgai, Sara Altmeyer, Stephanie Wiegand, Przemko Tylzanowski, Sigmar Stricker
PLoS One. 2018; 13(5): e0197535. Published online 2018 May 17. doi: 10.1371/journal.pone.0197535
PMCID:
PMC5957397
ArticlePubReaderPDF–13MCite
18.
Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome
Lilian Torres, Gualberto Hernández, Alejandro Barrera, Sandra Ospina, Rolando Prada
Colomb Med (Cali) 2015 Jul-Sep; 46(3): 150–153. Published online 2015 Sep 30.
PMCID:
PMC4640438
ArticlePubReaderPDF–945KCite
19.
Expanding the Genetic and Phenotypic Spectrum of Popliteal Pterygium Disorders
Elizabeth J. Leslie, James O'Sullivan, Michael L. Cunningham, Ankur Singh, Steven L. Goudy, Faroug Ababneh, Lamia Alsubaie, Gaik-Siew Ch'ng, Ingrid M.B.H. van der Laar, A. Jeannette M. Hoogeboom, Martine Dunnwald, Seema Kapoor, Pawina Jiramongkolchai, Jennifer Standley, J. Robert Manak, Jeffrey C. Murray, Michael J. Dixon
Am J Med Genet A. Author manuscript; available in PMC 2015 May 7.
Published in final edited form as: Am J Med Genet A. 2015 Mar; 0(3): 545–552. doi: 10.1002/ajmg.a.36896
PMCID:
PMC4423539
ArticlePubReaderPDF–701KCite
20.
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3
Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, Maria Kirchhoff, Flemming Skovby, Claudine Rieubland, Sabina Gallati, Olaf Rittinger, Peter M Kroisel, David Johnson, Leslie G Biesecker, Andrew OM Wilkie
Eur J Hum Genet. 2011 Jul; 19(7): 757–762. Published online 2011 Feb 16. doi: 10.1038/ejhg.2011.13
PMCID:
PMC3128494
ArticlePubReaderPDF–380KCite

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