Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14
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[1] Frank Speleman,et al. Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience. , 2009, European journal of medical genetics.
[2] M. Schwellnus,et al. The association between the COL12A1 gene and anterior cruciate ligament ruptures , 2009, British Journal of Sports Medicine.
[3] Manuel Corpas,et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. , 2009, American journal of human genetics.
[4] M. Zherebtsov,et al. Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature , 2007, Clinical dysmorphology.
[5] G Mortier,et al. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports , 2006, Journal of Medical Genetics.
[6] Y. Sari. Serotonin1B receptors: from protein to physiological function and behavior , 2004, Neuroscience & Biobehavioral Reviews.
[7] Makoto Sato,et al. Filamin A-interacting protein (FILIP) regulates cortical cell migration out of the ventricular zone , 2002, Nature Cell Biology.
[8] T. Jentsch. Neuronal KCNQ potassium channels:physislogy and role in disease , 2000, Nature Reviews Neuroscience.
[9] Peter J. van der Spek,et al. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases , 1999, Nature Genetics.
[10] A. Chudley,et al. Proximal interstitial 6q deletion: a recognizable syndrome. , 1997, American journal of medical genetics.
[11] H. Saal,et al. New insights into the phenotypes of 6q deletions. , 1997, American journal of medical genetics.
[12] H. Mandel,et al. Interstitial deletion (6)q13q15. , 1996, American journal of medical genetics.
[13] B. Kousseff,et al. Monosomy 6q1: syndrome delineation. , 1996, American journal of medical genetics.
[14] U. Francke,et al. Congenital anomalies including the VATER association in a patient with del(6)q deletion. , 1977, The Journal of pediatrics.
[15] S. Antonarakis,et al. Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms. , 2009, European journal of medical genetics.
[16] W. Driever,et al. Zebrafish collagen XII is present in embryonic connective tissue sheaths (fascia) and basement membranes. , 2009, Matrix biology : journal of the International Society for Matrix Biology.
[17] S. Myers,et al. Proximal 6q interstitial deletion without severe mental retardation. , 2005, Genetic counseling.
[18] C. Moore,et al. Deletions of the long arm of chromosome 6: two new cases and review of the literature. , 1985, American journal of medical genetics.