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Seyedmehdi Shojaee, Farzad Sina, Setareh Sadat Banihosseini, Mohammad Hossein Kazemi, Reza Kalhor, Gholam-Ali Shahidi, Hossein Fakhrai-Rad, Mostafa Ronaghi, Elahe Elahi

American journal of human genetics 2008;82(6):1375-84

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DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

Barbara Rivera, Javad Nadaf, Somayyeh Fahiminiya, Maria Apellaniz-Ruiz, Avi Saskin, Anne-Sophie Chong, Sahil Sharma, Rabea Wagener, Timothée Revil, Vincenzo Condello, Zineb Harra, Nancy Hamel, Nelly Sabbaghian, Karl Muchantef, Christian Thomas, Leanne de Kock, Marie-Noëlle Hébert-Blouin, Angelia V Bassenden, Hannah Rabenstein, Ozgur Mete, Ralf Paschke, Marc P Pusztaszeri, Werner Paulus, Albert Berghuis, Jiannis Ragoussis, Yuri E Nikiforov, Reiner Siebert, Steffen Albrecht, Robert Turcotte, Martin Hasselblatt, Marc R Fabian, William D Foulkes

The Journal of clinical investigation 2020;130(3):1479-1490

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Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism.

Michael S Breen, Andrew Browne, Gabriel E Hoffman, Sofia Stathopoulos, Kristen Brennand, Joseph D Buxbaum, Elodie Drapeau

Molecular autism 2021;11(1):53

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An update on the genetics of schizophrenia.

Nadine Norton, Hywel J Williams, Michael J Owen

Current opinion in psychiatry 2006;19(2):158-64

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Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia.

A R Sanders, I Rusu, J Duan, J E Vander Molen, C Hou, S G Schwab, D B Wildenauer, M Martinez, P V Gejman

Molecular psychiatry 2005;10(4):353-65

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t(8;22)/BCR-FGFR1 myeloproliferative disorder presenting as B-acute lymphoblastic leukemia: report of a case treated with sorafenib and review of the literature.

Jad J Wakim, Carlos A Tirado, Weina Chen, Robert Collins

Leukemia research 2011;35(9):e151-3

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Results for ""Chromosomes, Human, Pair 22""[mesh_terms]

Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome.

Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.

Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome.

Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study.

Is COMT a susceptibility gene for schizophrenia?

Molecular basis for glucose-galactose malabsorption.

Separate and interacting effects within the catechol-O-methyltransferase (COMT) are associated with schizophrenia.

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.

Complex rearrangement of chromosomes 19, 21, and 22 in Ewing sarcoma involving a novel reciprocal inversion-insertion mechanism of EWS-ERG fusion gene formation: a case analysis and literature review.

Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism.

An update on the genetics of schizophrenia.

Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia.

t(8;22)/BCR-FGFR1 myeloproliferative disorder presenting as B-acute lymphoblastic leukemia: report of a case treated with sorafenib and review of the literature.

Results for
""Chromosomes, Human, Pair 22""[mesh_terms]