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Items: 17

1.
tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
T. W. Yew, L. McCreight, K. Colclough, S. Ellard, E. R. Pearson
Diabet Med. 2016 Sep; 33(9): e21–e25. Published online 2016 Aug 17. doi: 10.1111/dme.13024
PMCID:
PMC4995728
AbstractArticlePDF–180K
2.
A case of the orocraniodigital (Juberg-Hayward) syndrome.
N C Nevin, P Henry, P T Thomas
J Med Genet. 1981 Dec; 18(6): 478–480. doi: 10.1136/jmg.18.6.478
PMCID:
PMC1048801
SummaryPage BrowsePDF–790K
3.
Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features
A M Estop, P A Mowery-Rushton, K M Cieply, S J Kochmar, C R Sherer, M Clemens, U Surti, E McPherson
J Med Genet. 1995 Oct; 32(10): 819–822. doi: 10.1136/jmg.32.10.819
PMCID:
PMC1051710
SummaryPage BrowsePDF–1.0M
4.
Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation
Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschke, Asma Smahi, Arnold Munnich, Laurence Colleaux
Am J Hum Genet. 2009 Dec 11; 85(6): 903–908. doi: 10.1016/j.ajhg.2009.11.007
PMCID:
PMC2795800
AbstractArticlePDF–483K
5.
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
Ravinesh A Kumar, Jyotsna Sudi, Timothy D Babatz, Camille W Brune, Donald Oswald, Mayon Yen, Norma J Nowak, Edwin H Cook, Susan L Christian, William B Dobyns
J Med Genet. 2010 Feb; 47(2): 81–90. Published online 2009 Jun 21. doi: 10.1136/jmg.2008.065821
PMCID:
PMC2921284
AbstractArticlePDF–1.5M
6.
Whole Exome Sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Fernando Martinez, Jeong Ho Lee, Ji Eun Lee, Sandra Blanco, Elizabeth Nickerson, Stacey Gabriel, Michaela Frye, Lihadh Al-Gazali, Joseph G. Gleeson
J Med Genet. Author manuscript; available in PMC 2016 Mar 1.
Published in final edited form as: J Med Genet. 2012 Jun; 49(6): 380–385. Published online 2012 May 10. doi: 10.1136/jmedgenet-2011-100686
PMCID:
PMC4771841
AbstractArticlePDF–785K
7.
Aberrant cortical development is driven by impaired cell cycle and translational control in a DDX3X syndrome model
Mariah L Hoye, Lorenzo Calviello, Abigail J Poff, Nna-Emeka Ejimogu, Carly R Newman, Maya D Montgomery, Jianhong Ou, Stephen N Floor, Debra L Silver
eLife. 2022; 11: e78203. Published online 2022 Jun 28. doi: 10.7554/eLife.78203
PMCID:
PMC9239684
AbstractArticlePDF–14M
8.
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation
Ethiraj Ravindran, Hao Hu, Scott A. Yuzwa, Luis R. Hernandez-Miranda, Nadine Kraemer, Olaf Ninnemann, Luciana Musante, Eugen Boltshauser, Detlev Schindler, Angela Hübner, Hans-Christian Reinecker, Hans-Hilger Ropers, Carmen Birchmeier, Freda D. Miller, Thomas F. Wienker, Christoph Hübner, Angela M. Kaindl
PLoS Genet. 2017 Apr; 13(4): e1006746. Published online 2017 Apr 28. doi: 10.1371/journal.pgen.1006746
PMCID:
PMC5428974
AbstractArticlePDF–27M
9.
Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription
Farrah El-Saafin, Cynthia Curry, Tao Ye, Jean-Marie Garnier, Isabelle Kolb-Cheynel, Matthieu Stierle, Natalie L Downer, Mathew P Dixon, Luc Negroni, Imre Berger, Tim Thomas, Anne K Voss, William Dobyns, Didier Devys, Laszlo Tora
Hum Mol Genet. 2018 Jun 15; 27(12): 2171–2186. Published online 2018 Apr 10. doi: 10.1093/hmg/ddy126
PMCID:
PMC5985725
AbstractArticlePDF–1.2M
10.
Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst
Jianjun Xiong, Bingwu Xiang, Xiang Chen, Tao Cai
Medicine (Baltimore) 2019 Mar; 98(10): e14780. Published online 2019 Mar 8. doi: 10.1097/MD.0000000000014780
PMCID:
PMC6417543
AbstractArticlePDF–452K
11.
Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities
Themistoklis Dagklis, Elena Papageorgiou, Elisavet Siomou, Vassilis Paspaliaris, Christina Zerva, Panagiotis Chatzis, Loretta Thomaidis, Emmanouil Manolakos, Ioannis Papoulidis
Mol Cytogenet. 2016; 9: 77. Published online 2016 Oct 6. doi: 10.1186/s13039-016-0288-y
PMCID:
PMC5053025
AbstractArticlePDF–585K
12.
Small head circumference at birth: an 8-year retrospective cohort study in China
Shiliang Liu, Yanmei Pan, Nathalie Auger, Wen Sun, Lijuan Dai, Sihui Li, Sushan Xie, Shi Wu Wen, Dunjin Chen
BMJ Paediatr Open. 2019; 3(1): e000470. Published online 2019 May 30. doi: 10.1136/bmjpo-2019-000470
PMCID:
PMC6570484
AbstractArticlePDF–393K
13.
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report
Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Markos Mihalatos, Sandro Orru, Haris Kokotas, George Kitsos, Thomas Liehr, Michael B Petersen
Mol Cytogenet. 2008; 1: 24. Published online 2008 Nov 11. doi: 10.1186/1755-8166-1-24
PMCID:
PMC2587471
AbstractArticlePDF–464K
14.
The de Lange Syndrome: Report of Three Cases
Robert Gibson
Can Med Assoc J. 1964 Sep 19; 91(12): 643–646.
PMCID:
PMC1927528
SummaryPage BrowsePDF–1.5M
15.
Congenital Zika syndrome: association between the gestational trimester of maternal infection, severity of brain computed tomography findings and microcephaly at birth
Ana Karolina Torres Mendes, Marizélia Rodrigues Costa Ribeiro, Fernando Lamy-Filho, Gláucio Andrade Amaral, Marcella Costa Ribeiro Borges, Luciana Cavalcante Costa, Tamires Barradas Cavalcante, Rosângela Fernandes Lucena Batista, Patrícia da Silva Sousa, Antônio Augusto Moura da Silva
Rev Inst Med Trop Sao Paulo. 2020; 62: e56. Published online 2020 Aug 21. doi: 10.1590/S1678-9946202062056
PMCID:
PMC7447234
AbstractArticlePDF–340K
16.
De Novo KMT2D Heterozygous Frameshift Deletion in a Newborn with a Congenital Heart Anomaly
Š Stangler Herodež, N Marčun Varda, Assistant Dr. Kokalj Vokač N, D Krgović
Balkan J Med Genet. 2020 Jun; 23(1): 83–90. Published online 2020 Aug 26. doi: 10.2478/bjmg-2020-0008
PMCID:
PMC7474217
AbstractArticlePDF–4.6M
17.
Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline
Jeremy N. Pulvers, Jarosław Bryk, Jennifer L. Fish, Michaela Wilsch-Bräuninger, Yoko Arai, Dora Schreier, Ronald Naumann, Jussi Helppi, Bianca Habermann, Johannes Vogt, Robert Nitsch, Attila Tóth, Wolfgang Enard, Svante Pääbo, Wieland B. Huttner
Proc Natl Acad Sci U S A. 2010 Sep 21; 107(38): 16595–16600. Published online 2010 Sep 7. doi: 10.1073/pnas.1010494107
PMCID:
PMC2944708
AbstractArticlePDF–1.4M

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