Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndromeHow to cite this article: Raca G, Schimmenti L, Martin CL. 2008. Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome. Am J Med Genet Part A 146A:401–404.

Autor: Raca, Gordana, Schimmenti, Lisa, Martin, Christa Lese

Publikováno v: American Journal of Medical Genetics. Part A; February 2008, Vol. 146 Issue: 3 p401-404, 4p

A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.

Autor: Wilke MVMB; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Schimmenti L; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Otorhinolaryngology, Head and Neck Surgery, Mayo Clinic, Rochester, Minnesota, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA., Lopour MQR; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Tollefson MM; Department of Dermatology, Mayo Clinic, Rochester, Minnesota, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2271. Date of Electronic Publication: 2023 Aug 28.

Comorbidity and Severity in Childhood Apraxia of Speech: A Retrospective Chart Review.

Autor: Chenausky KV; Department of Communication Sciences and Disorders, MGH Institute of Health Professions, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA., Baas B; Division of Speech Pathology, Department of Neurology, Mayo Clinic, Rochester, MN., Stoeckel R; Division of Speech Pathology, Department of Neurology, Mayo Clinic, Rochester, MN., Brown T; Division of Speech Pathology, Department of Neurology, Mayo Clinic, Rochester, MN., Green JR; Department of Communication Sciences and Disorders, MGH Institute of Health Professions, Boston, MA.; Speech and Hearing Bioscience and Technology, Harvard University, Boston, MA., Runke C; Departments of Clinical Genomics, Otolaryngology-Head and Neck Surgery, Ophthalmology, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN., Schimmenti L; Departments of Clinical Genomics, Otolaryngology-Head and Neck Surgery, Ophthalmology, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN., Clark H; Division of Speech Pathology, Department of Neurology, Mayo Clinic, Rochester, MN.

Publikováno v: Journal of speech, language, and hearing research : JSLHR [J Speech Lang Hear Res] 2023 Mar 07; Vol. 66 (3), pp. 791-803. Date of Electronic Publication: 2023 Feb 16.

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Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.

Autor: Hu, Xueling¹ (AUTHOR), Lin, Wei² (AUTHOR), Luo, Zengyuan¹ (AUTHOR), Zhong, Yong¹ (AUTHOR), Xiao, Xiangcheng¹ (AUTHOR), Tang, Rong¹ (AUTHOR) tangrbsoon@126.com

Publikováno v: Molecular Genetics & Genomic Medicine. Sep2024, Vol. 12 Issue 9, p1-6. 6p.