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Items: 1 to 20 of 45

1.
Adducted Thumb in the First Trimester of Pregnancy: An Early Clue to Prenatal Diagnosis of L1 Syndrome
Yan-Dong Yang, Dong-Zhi Li
J Med Ultrasound. 2023 Oct-Dec; 31(4): 331–333. Published online 2022 Sep 29. doi: 10.4103/jmu.jmu_43_22
PMCID:
PMC10802866
AbstractArticlePDF–927K
2.
Surgical treatment for the thumb‐in‐palm deformity in patients with cerebral palsy
Mark J.C. Smeulders, Annemieke Coester, Michiel Kreulen, Cochrane Movement Disorders Group
Cochrane Database Syst Rev. 2005 Oct; 2005(4): CD004093. Published online 2005 Oct 19. doi: 10.1002/14651858.CD004093.pub2
PMCID:
PMC8763345
AbstractArticlePDF–235K
3.
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature
Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, Sabina Barresi, Gianluca Contrò, Simone Pizzi, Ilenia Maini, Marzia Pollazzon, Carlo Fusco, Silvia Sassi, Davide Nicoli, Manuela Napoli, Rosario Pascarella, Giancarlo Gargano, Orsetta Zuffardi, Marco Tartaglia, Livia Garavelli
Genes (Basel) 2021 Jul; 12(7): 950. Published online 2021 Jun 22. doi: 10.3390/genes12070950
PMCID:
PMC8303405
AbstractArticlePDF–1.4M
4.
The Dynamic Thumb-in-Palm Pattern in Children with Spastic Cerebral Palsy and Its Effects on Upper Limb Function
Ja Young Choi, Dong-Wook Rha, Seon Ah Kim, Eun Sook Park
Children (Basel) 2021 Jan; 8(1): 17. Published online 2020 Dec 31. doi: 10.3390/children8010017
PMCID:
PMC7824439
AbstractArticlePDF–499K
5.
Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment: A STROBE compliant study
Yun-Shu Ouyang, Yi-Xiu Zhang, Hua Meng, Xi-Ning Wu, Qing-Wei Qi
Medicine (Baltimore) 2018 Sep; 97(38): e12437. Published online 2018 Sep 21. doi: 10.1097/MD.0000000000012437
PMCID:
PMC6160029
AbstractArticlePDF–270K
6.
Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies
Edgardo Corral, Andres Barrios, Monica Isnard, Pascale Saugier-Veber, Sophie M. Fortier, Sarah Durrin, Waldo Sepulveda
Case Rep Obstet Gynecol. 2015; 2015: 561713. Published online 2015 May 20. doi: 10.1155/2015/561713
PMCID:
PMC4452865
AbstractArticlePDF–1.9M
7.
Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome
Munis Dündar, Thomas Müller, Qi Zhang, Jing Pan, Beat Steinmann, Julia Vodopiutz, Robert Gruber, Tohru Sonoda, Birgit Krabichler, Gerd Utermann, Jacques U. Baenziger, Lijuan Zhang, Andreas R. Janecke
Am J Hum Genet. 2009 Dec 11; 85(6): 873–882. doi: 10.1016/j.ajhg.2009.11.010
PMCID:
PMC2790573
AbstractArticlePDF–1.3M
8.
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.
M Jouet, A Moncla, J Paterson, C McKeown, A Fryer, N Carpenter, E Holmberg, C Wadelius, S Kenwrick
Am J Hum Genet. 1995 Jun; 56(6): 1304–1314.
PMCID:
PMC1801103
SummaryPage BrowsePDF–2.2M
9.
Mouse Models of Musculocontractural Ehlers-Danlos Syndrome
Takahiro Yoshizawa, Tomoki Kosho
Genes (Basel) 2023 Feb; 14(2): 436. Published online 2023 Feb 8. doi: 10.3390/genes14020436
PMCID:
PMC9957544
AbstractArticlePDF–1.6M
10.
Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review
Ying Li, Chuangwen Zhang, Hongyu Zhang, Weiqi Feng, Qiuji Wang, Ruixin Fan
BMC Med Genomics. 2022; 15: 27. Published online 2022 Feb 12. doi: 10.1186/s12920-022-01160-9
PMCID:
PMC8841085
AbstractArticlePDF–1.8M
11.
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis
Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, Simonetta Rosato, Heidi Fodstad, Belinda Campos-Xavier, Emanuele Soncini, Giuseppina Comitini, Daniele Frattini, Teresa Grimaldi, Maria Marinelli, Davide Martorana, Antonio Percesepe, Silvia Sassi, Carlo Fusco, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli
Genes (Basel) 2022 Jan; 13(1): 29. Published online 2021 Dec 23. doi: 10.3390/genes13010029
PMCID:
PMC8774604
AbstractArticlePDF–5.7M
12.
A new frameshift mutation in L1CAM producing X‐linked hydrocephalus
Weiqi Kong, Xueyan Wang, Jing Zhao, Min Kang, Na Xi, Shengmei Li
Mol Genet Genomic Med. 2020 Jan; 8(1): e1031. Published online 2019 Nov 22. doi: 10.1002/mgg3.1031
PMCID:
PMC6978236
AbstractArticlePDF–407K
13.
Abnormalities in Neuronal Process Extension, Hippocampal Development, and the Ventricular System of L1 Knockout Mice
Galina P. Demyanenko, Amy Y. Tsai, Patricia F. Maness
J Neurosci. 1999 Jun 15; 19(12): 4907–4920. doi: 10.1523/JNEUROSCI.19-12-04907.1999
PMCID:
PMC6782672
AbstractArticlePDF–1.9M
14.
The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations
Andreas R. Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, Irene Fuchs, Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek, Beat Steinmann
Am J Med Genet A. Author manuscript; available in PMC 2016 Nov 18.
Published in final edited form as: Am J Med Genet A. 2016 Jan; 170A(1): 103–115. Published online 2015 Sep 16. doi: 10.1002/ajmg.a.37383
PMCID:
PMC5115638
AbstractArticlePDF–3.3M
15.
Biological functions of iduronic acid in chondroitin/dermatan sulfate
Martin A Thelin, Barbara Bartolini, Jakob Axelsson, Renata Gustafsson, Emil Tykesson, Edgar Pera, Åke Oldberg, Marco Maccarana, Anders Malmstrom
FEBS J. 2013 May; 280(10): 2431–2446. Published online 2013 Mar 28. doi: 10.1111/febs.12214
PMCID:
PMC3717172
AbstractArticlePDF–623K
16.
The role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development
Yukiko Nakamura, Suni Lee, Candace L. Haddox, Eli J. Weaver, Vance P. Lemmon
J Comp Neurol. Author manuscript; available in PMC 2011 Aug 19.
Published in final edited form as: J Comp Neurol. 2010 Apr 1; 518(7): 1113–1132. doi: 10.1002/cne.22267
PMCID:
PMC3158433
AbstractArticlePDF–3.2M
17.
The C. elegans L1CAM homologue LAD-2 functions as a coreceptor in MAB-20/Sema2–mediated axon guidance
Xuelin Wang, Wei Zhang, Thomas Cheever, Valentin Schwarz, Karla Opperman, Harald Hutter, Deanna Koepp, Lihsia Chen
J Cell Biol. 2008 Jan 14; 180(1): 233–246. doi: 10.1083/jcb.200704178
PMCID:
PMC2213605
AbstractArticlePDF–2.7M
18.
CRASH Syndrome: Mutations in L1CAM Correlate with Severity of the Disease
M. Yamasaki, P Thompson, V Lemmon
Neuropediatrics. Author manuscript; available in PMC 2006 Sep 11.
Published in final edited form as: Neuropediatrics. 1997 Jun; 28(3): 175–178. doi: 10.1055/s-2007-973696
PMCID:
PMC1563987
AbstractArticlePDF–101K
19.
The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.
R C Michaelis, Y Z Du, C E Schwartz
J Med Genet. 1998 Nov; 35(11): 901–904. doi: 10.1136/jmg.35.11.901
PMCID:
PMC1051481
SummaryPage BrowsePDF–770K
20.
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
Y Z Du, C Dickerson, A S Aylsworth, C E Schwartz
J Med Genet. 1998 Jun; 35(6): 456–462. doi: 10.1136/jmg.35.6.456
PMCID:
PMC1051338
SummaryPage BrowsePDF–1.7M

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