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Items: 11

1.
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
AbstractArticlePDF–1.3M
2.
Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24
Judith Goodship, Harinder Gill, Joan Carter, Andrew Jackson, Miranda Splitt, Michael Wright
Am J Hum Genet. 2000 Aug; 67(2): 498–503. Published online 2000 Jul 11. doi: 10.1086/303023
PMCID:
PMC1287195
AbstractArticlePDF–290K
3.
Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.
C Perandones, R I Cerretini, R M Vargas Vera, E I Aranda, L G Alba, O H Pivetta
J Med Genet. 1996 Mar; 33(3): 227–229. doi: 10.1136/jmg.33.3.227
PMCID:
PMC1051873
SummaryPage BrowsePDF–1.0M
4.
Facial growth and development trajectories based on three-dimensional images: geometric morphometrics with a deformation perspective
Yu Jie Zhong, Dan Cui, Patrick Yi Feng Wen, Hai Ming Wong
R Soc Open Sci. 2024 Jan; 11(1): 231438. Published online January 10, 2024. doi: 10.1098/rsos.231438
PMCID:
PMC10776214
AbstractArticlePDF–3.6M
5.
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
Neurogenetics. 2023; 24(3): 201–208. Published online 2023 Jun 8. doi: 10.1007/s10048-023-00722-y
Retraction in:
Neurogenetics. 2024; 25(1): 49.
PMCID:
PMC10319691
AbstractArticle
6.
Tracheobronchial Tree Ossification in a 5-Year-Old Boy with Keutel Syndrome: A Case Report
Reza Shabanian, Amir Amiri, Saghi Elmi, Toktam Sheykhian
J Tehran Heart Cent. 2022 Jul; 17(3): 152–155. doi: 10.18502/jthc.v17i3.10849
PMCID:
PMC10222938
AbstractArticlePDF–1.1M
7.
Modification of the Fetal Profile Line to Measure Reversal of Forehead Slope after Early Repair of Frontoethmoidal Encephalocele
Paramita Das, Martin Lacey, Daniel J. Guillaume
J Neurol Surg B Skull Base. 2021 Jul; 82(Suppl 3): e300–e305. Published online 2020 Jan 24. doi: 10.1055/s-0039-3401998
PMCID:
PMC8289533
AbstractArticlePDF–228K
8.
Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review
Takahiro Omoto, Toshifumi Takahashi, Keiya Fujimori, Shogo Kin
BMC Pregnancy Childbirth. 2020; 20: 688. Published online 2020 Nov 11. doi: 10.1186/s12884-020-03400-1
PMCID:
PMC7661269
AbstractArticlePDF–1.8M
9.
Microcephalic osteodysplastic primordial dwarfism type 1
Steven Ferrell, Aaron Johnson, Waylon Pearson
BMJ Case Rep. 2016; 2016: bcr2016215502. Published online 2016 Jun 16. doi: 10.1136/bcr-2016-215502
PMCID:
PMC4932407
AbstractArticlePDF–592K
10.
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report
Andrea Ballini, Stefania Cantore, Domenica Tullo, Apollonia Desiate
J Med Case Reports. 2011; 5: 38. Published online 2011 Jan 27. doi: 10.1186/1752-1947-5-38
PMCID:
PMC3039604
AbstractArticlePDF–1.5M
11.
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.
D Melis, L Perone, M P Sperandeo, M S Sabbatino, M R Tuzzi, A Romano, G Parenti, G Andria
J Med Genet. 1998 Dec; 35(12): 1047–1049. doi: 10.1136/jmg.35.12.1047
PMCID:
PMC1051523
SummaryPage BrowsePDF–624K

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