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Items: 19

1.
Multiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms
Cristal Hernandez-Hernandez, Jose Pascual, Simon Carlo, Frances Velez-Bartolomei, Edwin Rodriguez, Alberto Santiago Cornier
AME Case Rep. 2021; 5: 40. Published online 2021 Oct 25. doi: 10.21037/acr-21-25
PMCID:
PMC8572670
AbstractArticlePDF–584K
2.
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Maria-Teresa Romano, Aylar Tafazzoli, Maximilian Mattern, Sugirthan Sivalingam, Sabrina Wolf, Alexander Rupp, Holger Thiele, Janine Altmüller, Peter Nürnberg, Jürgen Ellwanger, Reto Gambon, Alessandra Baumer, Nicolai Kohlschmidt, Dieter Metze, Stefan Holdenrieder, Ralf Paus, Dieter Lütjohann, Jorge Frank, Matthias Geyer, Marta Bertolini, Pavlos Kokordelis, Regina C. Betz
Am J Hum Genet. 2018 Nov 1; 103(5): 777–785. Published online 2018 Oct 25. doi: 10.1016/j.ajhg.2018.09.011
PMCID:
PMC6218848
AbstractArticlePDF–2.4M
3.
Surgical Correction of Hallermann-Streiff Syndrome: A Case Report of Esotropia, Entropion, and Blepharoptosis
Won-Kyung Cho, Joo Wan Park, Mi Ra Park
Korean J Ophthalmol. 2011 Apr; 25(2): 142–145. Published online 2011 Mar 14. doi: 10.3341/kjo.2011.25.2.142
PMCID:
PMC3060394
AbstractArticlePDF–1.3M
4.
OCULAR AND ORBITAL MANIFESTATIONS OF THE INHERITED BONE MARROW FAILURE SYNDROMES: FANCONI ANEMIA AND DYSKERATOSIS CONGENITA
Ekaterini T. Tsilou, Neelam Giri, Sarah Weinstein, Christine Mueller, Sharon A. Savage, Blanche P. Alter
Ophthalmology. Author manuscript; available in PMC 2011 Mar 1.
Published in final edited form as: Ophthalmology. 2010 Mar; 117(3): 615–622. Published online 2009 Dec 22. doi: 10.1016/j.ophtha.2009.08.023
PMCID:
PMC2830377
AbstractArticlePDF–1.2M
5.
Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
Cheng Zhou, Pei Wang, Dingquan Yang, Wenjun Liao, Qing Guo, Jiacheng Li, Guangdong Wen, Shuying Zheng, Xue Zhang, Rongrong Wang, Jianzhong Zhang
Mol Genet Genomic Med. 2022 Apr; 10(4): e1889. Published online 2022 Feb 11. doi: 10.1002/mgg3.1889
PMCID:
PMC9000931
AbstractArticlePDF–1.4M
6.
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Yoo-Mi Kim, Hyo-Sang Do, Jeongmin Choi, In Hee Choi, Han-Wook Yoo, Beom Hee Lee
BMC Med Genomics. 2021; 14: 254. Published online 2021 Oct 27. doi: 10.1186/s12920-021-01104-9
PMCID:
PMC8555129
AbstractArticlePDF–767K
7.
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
AbstractArticlePDF–2.9M
8.
UBE2A-Related X-linked Intellectual Disability
Roger E. Stevenson, Albert E. Chudley, Anand K. Srivastava, Jayson Rodriguez, Michael J. Friez, Charles E. Schwartz
Clin Dysmorphol. Author manuscript; available in PMC 2020 Jan 1.
Published in final edited form as: Clin Dysmorphol. 2019 Jan; 28(1): 1–6. doi: 10.1097/MCD.0000000000000242
PMCID:
PMC6279472
AbstractArticlePDF–304K
9.
Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation
Anas Salih, Susumu Inoue, Nkechi Onwuzurike
BMJ Case Rep. 2018; 2018: bcr2017222384. Published online 2018 Jan 23. doi: 10.1136/bcr-2017-222384
PMCID:
PMC5786930
AbstractArticlePDF–724K
10.
Overlap syndrome: a diagnostic dilemma
Kaushal Mahendra Shah, Sampada Kanitkar
BMJ Case Rep. 2012; 2012: bcr-2012-007458. Published online 2012 Nov 27. doi: 10.1136/bcr-2012-007458
PMCID:
PMC4544209
AbstractArticlePDF–633K
11.
Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome
Yavuz Bayram, Davut Pehlivan, Ender Karaca, Tomasz Gambin, Shalini N. Jhangiani, Serkan Erdin, Claudia Gonzaga-Jauregui, Wojciech Wiszniewski, Donna Muzny, Baylor-Hopkins Center for Mendelian Genomics, Nursel H. Elcioglu, M. Selman Yildirim, Banu Bozkurt, Ayse Gul Zamani, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski
Am J Med Genet A. Author manuscript; available in PMC 2015 Feb 18.
Published in final edited form as: Am J Med Genet A. 2014 Sep; 0(9): 2328–2334. Published online 2014 Jul 14. doi: 10.1002/ajmg.a.36678
PMCID:
PMC4332576
AbstractArticlePDF–914K
12.
In Silico Analysis of Missense Mutations in LPAR6 Reveals Abnormal Phospholipid Signaling Pathway Leading to Hypotrichosis
Syed Irfan Raza, Dost Muhammad, Abid Jan, Raja Hussain Ali, Mubashir Hassan, Wasim Ahmad, Sajid Rashid
PLoS One. 2014; 9(8): e104756. Published online 2014 Aug 13. doi: 10.1371/journal.pone.0104756
PMCID:
PMC4132050
AbstractArticlePDF–1.6M
13.
The prostamide-related glaucoma therapy, bimatoprost, offers a novel approach for treating scalp alopecias
Karzan G. Khidhir, David F. Woodward, Nilofer P. Farjo, Bessam K. Farjo, Elaine S. Tang, Jenny W. Wang, Steven M. Picksley, Valerie A. Randall
FASEB J. 2013 Feb; 27(2): 557–567. doi: 10.1096/fj.12-218156
PMCID:
PMC3545535
AbstractArticle
14.
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin
Hyunmi Kim, Muhammad Wajid, Liv Kraemer, Yutaka Shimomura, Angela M. Christiano
J Dermatol Sci. Author manuscript; available in PMC 2012 May 1.
Published in final edited form as: J Dermatol Sci. 2007 Dec; 48(3): 207–211. Published online 2007 Sep 14. doi: 10.1016/j.jdermsci.2007.07.007
PMCID:
PMC3341169
AbstractArticlePDF–1.5M
15.
Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
Kyung-Hee Park, Seung-Tae Lee, Chang-Seok Ki, Shin-Yun Byun
J Korean Med Sci. 2010 Dec; 25(12): 1821–1823. Published online 2010 Nov 24. doi: 10.3346/jkms.2010.25.12.1821
PMCID:
PMC2995242
AbstractArticlePDF–789K
16.
Mutations in the hairless gene underlie APL in three families of Pakistani origin
Liv Kraemer, Muhammad Wajid, Yutaka Shimomura, Angela M. Christiano
J Dermatol Sci. Author manuscript; available in PMC 2010 Aug 3.
Published in final edited form as: J Dermatol Sci. 2008 Apr; 50(1): 25–30. doi: 10.1016/j.jdermsci.2007.10.012
PMCID:
PMC2914536
AbstractArticlePDF–1.4M
17.
A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles
Muhammad Ayub, Sulman Basit, Musharraf Jelani, Fazal Ur Rehman, Muhammad Iqbal, Masoom Yasinzai, Wasim Ahmad
Am J Hum Genet. 2009 Oct 9; 85(4): 515–520. doi: 10.1016/j.ajhg.2009.08.015
PMCID:
PMC2756559
AbstractArticlePDF–603K
18.
Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).
P W Allderdice, N Browne, D P Murphy
Am J Hum Genet. 1975 Nov; 27(6): 699–718.
PMCID:
PMC1762887
SummaryPage BrowsePDF–3.1M
19.
Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.
S A Tharapel, R C Lewandowski, A T Tharapel, R S Wilroy, Jr
J Med Genet. 1986 Aug; 23(4): 310–315. doi: 10.1136/jmg.23.4.310
PMCID:
PMC1049695
SummaryPage BrowsePDF–831K

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