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Select item 67756411.

Molecular Cytogenetic Analysis of Patients With Holoprosencephaly and Structural Rearrangements of 7q

Gail H. Vance, Catherine Nickerson, Lauren Sarnat, Aiwu Zhang, Octavian Henegariu, Nicole Morichon-Delvallez, Merlin G. Butler, Catherine G. Palmer

Am J Med Genet. Author manuscript; available in PMC 2019 Oct 3.

Published in final edited form as: Am J Med Genet. 1998 Feb 26; 76(1): 51–57.

PMCID:: PMC6775641

Article PDF–1.1M

Select item 10507712.

Currarino triad with a terminal deletion 7q35-->qter.

M Masuno, K Imaizumi, N Aida, Y Tanaka, K Sekido, Y Ohhama, T Nishi, Y Kuroki

J Med Genet. 1996 Oct; 33(10): 877–878. doi: 10.1136/jmg.33.10.877

PMCID:: PMC1050771

Summary Page Browse PDF–308K

Select item 445533.

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.

M Muenke, F Gurrieri, C Bay, D H Yi, A L Collins, V P Johnson, R C Hennekam, G B Schaefer, L Weik, M S Lubinsky, et al.

Proc Natl Acad Sci U S A. 1994 Aug 16; 91(17): 8102–8106. doi: 10.1073/pnas.91.17.8102

PMCID:: PMC44553

Summary Page Browse PDF–790K

Select item 93298314.

Identification of Dysbetalipoproteinemia by an Enhanced Sampson-NIH Equation for Very Low-Density Lipoprotein-Cholesterol

Maureen Sampson, Anna Wolska, Jeff W. Meeusen, Leslie J. Donato, Allan S. Jaffe, Alan T. Remaley

Front Genet. 2022; 13: 935257. Published online 2022 Jul 14. doi: 10.3389/fgene.2022.935257

PMCID:: PMC9329831

Article PDF–2.1M

Select item 74447225.

Modern prevalence of dysbetalipoproteinemia (Fredrickson-Levy-Lees type III hyperlipoproteinemia)

Vincent A. Pallazola, Vasanth Sathiyakumar, Jihwan Park, Rachit M. Vakil, Peter P. Toth, Mariana Lazo-Elizondo, Emily Brown, Renato Quispe, Eliseo Guallar, Maciej Banach, Roger S. Blumenthal, Steven R. Jones, David Marais, Daniel Soffer, Allan D. Sniderman, Seth S. Martin

Arch Med Sci. 2020; 16(5): 993–1003. Published online 2019 Aug 2. doi: 10.5114/aoms.2019.86972

PMCID:: PMC7444722

Article PDF–192K

Select item 99427906.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

Shyam K. Akula, Jack H. Marciano, Youngshin Lim, David Exposito-Alonso, Norma K. Hylton, Grace H. Hwang, Jennifer E. Neil, Nicole Dominado, Rosie K. Bunton-Stasyshyn, Janet H. T. Song, Maya Talukdar, Aloisia Schmid, Lydia Teboul, Alisa Mo, Taehwan Shin, Benjamin Finander, Samantha G. Beck, Rebecca C. Yeh, Aoi Otani, Xuyu Qian, Ellen M. DeGennaro, Fowzan S. Alkuraya, Sateesh Maddirevula, Gregory D. Cascino, Caterina Giannini, Undiagnosed Diseases Network, Lindsay C. Burrage, Jill A. Rosenfield, Shamika Ketkar, Gary D. Clark, Carlos Bacino, Richard A. Lewis, Rosalind A. Segal, J. Fernando Bazan, Kelly A. Smith, Jeffrey A. Golden, Ginam Cho, Christopher A. Walsh

Proc Natl Acad Sci U S A. 2023 Jan 24; 120(4): e2209964120. Published online 2023 Jan 20. doi: 10.1073/pnas.2209964120

PMCID:: PMC9942790

Article PDF–13M

Select item 98517467.

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man

Hironori Bando, Michelle L Brinkmeier, Frederic Castinetti, Qing Fang, Mi-Sun Lee, Alexandru Saveanu, Frédérique Albarel, Clémentine Dupuis, Thierry Brue, Sally A Camper

Hum Mol Genet. 2023 Feb 1; 32(3): 367–385. Published online 2022 Aug 11. doi: 10.1093/hmg/ddac192

PMCID:: PMC9851746

Article PDF–3.5M

Select item 71708158.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Lianne C. Krab, Iñigo Marcos-Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Anne-Marie Bisgaard, David R. Fitzpatrick, Sanna Gudmundsson, Sylvia A. Huisman, Tugba Kalayci, Saskia M. Maas, Francisco Martinez, Shane McKee, Leonie A. Menke, Paul A. Mulder, Oliver D. Murch, Michael Parker, Juan Pie, Feliciano J. Ramos, Claudine Rieubland, Jill A. Rosenfeld Mokry, Emanuela Scarano, Marwan Shinawi, Paulino Gómez-Puertas, Zeynep Tümer, Raoul C. Hennekam

Hum Genet. 2020; 139(5): 575–592. Published online 2020 Mar 19. doi: 10.1007/s00439-020-02138-2

PMCID:: PMC7170815

Article PDF–1.3M

Select item 67776339.

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Pietro Palumbo, Antonio Petracca, Roberto Maggi, Tommaso Biagini, Grazia Nardella, Michele Carmine Sacco, Elia Di Schiavi, Massimo Carella, Lucia Micale, Marco Castori

Eur J Hum Genet. 2019 Jul; 27(7): 1113–1120. Published online 2019 Feb 20. doi: 10.1038/s41431-019-0350-4

PMCID:: PMC6777633

Article PDF–1.1M

Select item 669075510.

Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly

Cedrik Tekendo-Ngongang, Paul Kruszka, Ariel F Martinez, Maximilian Muenke

Clin Genet. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Clin Genet. 2019 Sep; 96(3): 266–270. Published online 2019 Jul 15. doi: 10.1111/cge.13598

PMCID:: PMC6690755

Article PDF–848K

Select item 612786711.

Cytogenetics and Holoprosencephaly: A Chromosomal Microarray Study of 222 Individuals with Holoprosencephaly

Tommy Hu, Paul Kruszka, Ariel F. Martinez, Jeffrey E. Ming, Emily K. Shabason, Manu S. Raam, Tamim H. Shaikh, Daniel E. Pineda-Alvarez, Maximilian Muenke

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2018 Jun; 178(2): 175–186. doi: 10.1002/ajmg.c.31622

PMCID:: PMC6127867

Article PDF–637K

Select item 608650812.

Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review

Crîngu Antoniu Ionescu, Dan Calin, Dan Navolan, Alexandra Matei, Mihai Dimitriu, Catalin Herghelegiu, Liana Ples

Medicine (Baltimore) 2018 Jul; 97(29): e11521. Published online 2018 Jul 20. doi: 10.1097/MD.0000000000011521

PMCID:: PMC6086508

Article PDF–818K

Select item 605089613.

“Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report

Krishnan Nagarajan, Elango Swamiappan, Sathiaprabhu Anbazhagan, Ashwin Dalal, Subathra Adithan, Timo Krings

Interv Neuroradiol. 2018 Aug; 24(4): 463–468. Published online 2018 Mar 28. doi: 10.1177/1591019918765239

PMCID:: PMC6050896

Article

Select item 604127014.

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity

Iain M. Dykes, Dorota Szumska, Linta Kuncheria, Rathi Puliyadi, Chiann-mun Chen, Costis Papanayotou, Helen Lockstone, Christèle Dubourg, Véronique David, Jurgen E. Schneider, Thomas M. Keane, David J. Adams, Steve D. M. Brown, Sandra Mercier, Sylvie Odent, Jérôme Collignon, Shoumo Bhattacharya

Sci Rep. 2018; 8: 10439. Published online 2018 Jul 11. doi: 10.1038/s41598-018-28714-1

PMCID:: PMC6041270

Article PDF–2.7M

Select item 601444215.

New mutations and an updated database for the patched‐1 (PTCH1) gene

Marie G. Reinders, Antonius F. van Hout, Betûl Cosgun, Aimée D. Paulussen, Edward M. Leter, Peter M. Steijlen, Klara Mosterd, Michel van Geel, Johan J. Gille

Mol Genet Genomic Med. 2018 May; 6(3): 409–415. Published online 2018 Mar 25. doi: 10.1002/mgg3.380

PMCID:: PMC6014442

Article PDF–420K

Select item 561388716.

The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1

L.A. Lansdon, H.V. Bernabe, N. Nidey, J. Standley, M.J. Schnieders, J.C. Murray

J Dent Res. 2017 Oct; 96(11): 1339–1345. Published online 2017 Aug 21. doi: 10.1177/0022034517726496

PMCID:: PMC5613887

Article PDF–670K

Select item 552753317.

Transforming growth‐interacting factor (TGIF) regulates proliferation and differentiation of human myeloid leukemia cells

Rizwan Hamid, Stephen J. Brandt

Mol Oncol. 2009 Oct; 3(5-6): 451–463. Published online 2009 Jul 29. doi: 10.1016/j.molonc.2009.07.004

PMCID:: PMC5527533

Article PDF–1.1M

Select item 462815418.

Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases

Mami YAMASAKI, Yonehiro KANEMURA

Neurol Med Chir (Tokyo) 2015 Aug; 55(8): 640–646. Published online 2015 Jul 31. doi: 10.2176/nmc.ra.2015-0075

PMCID:: PMC4628154

Article PDF–934K

Select item 456056019.

The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18

Marjorie C Gondré-Lewis, Temitayo Gboluaje, Shaina N Reid, Stephen Lin, Paul Wang, William Green, Rui Diogo, Marie N Fidélia-Lambert, Mary M Herman

J Anat. 2015 Sep; 227(3): 255–267. Published online 2015 Aug 17. doi: 10.1111/joa.12343

PMCID:: PMC4560560

Article PDF–2.4M

Select item 453420920.

Simultaneous deletion of the methylcytosine oxidases Tet1 and Tet3 increases transcriptome variability in early embryogenesis

Jinsuk Kang, Matthias Lienhard, William A. Pastor, Ashu Chawla, Mark Novotny, Ageliki Tsagaratou, Roger S. Lasken, Elizabeth C. Thompson, M. Azim Surani, Sergei B. Koralov, Sundeep Kalantry, Lukas Chavez, Anjana Rao

Proc Natl Acad Sci U S A. 2015 Aug 4; 112(31): E4236–E4245. Published online 2015 Jul 21. doi: 10.1073/pnas.1510510112

PMCID:: PMC4534209

Article PDF–2.1M

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