O PAPEL DO HEMOGRAMA COMO FERRAMENTA NO RASTREAMENTO DE MUCOPOLISSACARIDOSE. ANOMALIA DE ALDER-REILLY: RELATO DE UM CASO

Autor: Fuchs, TA, Perazzio, ADSB, Gonzalez, H, Takihi, IY, Silva, MCA, Chauffaille, MLLF, Gonçalves, MV, Mourad, SC, Baratela, WAR, Sandes, AF

Publikováno v: In Hematology, Transfusion and Cell Therapy October 2022 44 Supplement 2:S556-S557

International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study.

Autor: Boero, Silvio¹ (AUTHOR), Vodopiutz, Julia^2,3 (AUTHOR) julia.vodopiutz@meduniwien.ac.at, Maghnie, Mohamad^4,5 (AUTHOR), de Bergua, Josep M.⁶ (AUTHOR), Ginebreda, Ignacio⁷ (AUTHOR), Kitoh, Hiroshi⁸ (AUTHOR), Langendörfer, Micha⁹ (AUTHOR), Leiva-Gea, Antonio¹⁰ (AUTHOR), Malone, Jason¹¹ (AUTHOR), McClure, Philip¹² (AUTHOR), Mindler, Gabriel T.^2,13 (AUTHOR), Popkov, Dmitry¹⁴ (AUTHOR), Rodl, Robert¹⁵ (AUTHOR), Rosselli, Pablo¹⁶ (AUTHOR), Verdoni, Fabio¹⁷ (AUTHOR), Vilenskii, Viktor¹⁸ (AUTHOR), Huser, Aaron J.¹⁹ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 9/17/2024, Vol. 19 Issue 1, p1-15. 15p.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Autor: Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Reynolds JJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham B15 2TT, UK., Baratang NV; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T1J4, Canada., Phillips JB; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA., Wegner J; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA., McFarquhar A; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T1J4, Canada., Higgs MR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham B15 2TT, UK., Christiansen AE; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA., Lanza DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Seavitt JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Jain M; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Li X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Parry DA; Medical Research Council Institute of Genetics & Molecular Medicine, the University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK., Raman V; Division of Pediatric Endocrinology and Diabetes, University of Utah, Salt Lake City, UT 84112, USA., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON M5G 1Z5, Canada; Department of Pediatrics, Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada., Chinn IK; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Division of Pediatric Immunology, Allergy, and Rheumatology, Texas Children's Hospital, Houston, TX 77030, USA., Bertuch AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Karaviti L; Division of Diabetes and Endocrinology, Texas Children's Hospital, Houston, TX 77030, USA., Schlesinger AE; Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA; Department of Radiology, Baylor College of Medicine, Houston, TX 77030, USA., Earl D; Seattle Children's Hospital, Seattle, WA 98195, USA., Bamshad M; Seattle Children's Hospital, Seattle, WA 98195, USA; Departments of Pediatrics and Genome Sciences, University of Washington, Seattle, WA 98195, USA., Savarirayan R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, Parkville, VIC 3052, Australia., Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA., Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Postlethwait J; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA., Westerfield M; Institute of Neuroscience, University of Oregon, Eugene, OR 97403, USA., Dickinson ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA., Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Ranza E; Service of Genetic Medicine, University of Geneva Medical School, Geneva University Hospitals, 1205 Geneva, Switzerland., Huber C; Department of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris 75015, France., Cormier-Daire V; Department of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris 75015, France., Shen W; Associated Regional and University Pathologists Laboratories, Salt Lake City, UT 84108, USA; Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA., Mao R; Associated Regional and University Pathologists Laboratories, Salt Lake City, UT 84108, USA; Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA., Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Orange JS; Division of Pediatric Immunology, Allergy, and Rheumatology, Texas Children's Hospital, Houston, TX 77030, USA; Current affiliation: Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York Presbyterian, New York, NY 10032, USA., Bertola D; Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP 05403-000, Brazil; Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo, SP 05508-0900, Brazil., Yamamoto GL; Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP 05403-000, Brazil; Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo, SP 05508-0900, Brazil., Baratela WAR; Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP 05403-000, Brazil., Butler MG; Departments of Psychiatry and Behavioral Sciences and Pediatrics, Kansas University Medical Center, Kansas City, KS 66160, USA., Ali A; Department of Ophthalmology and Vision Sciences, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada., Adeli M; Department of Allergy and Immunology, Sidra Medicine, Hamad Medical Corporation, Weill Cornell Medicine, Qatar, Doha, Qatar., Cohn DH; Department of Molecular, Cell, and Developmental Biology and Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, CA 90095, USA., Krakow D; Department of Orthopaedic Surgery, Department of Human Genetics and Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, University of California, Los Angeles, Los Angeles, CA 90095, USA., Jackson AP; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Lees M; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK., Offiah AC; Department of Oncology and Metabolism, Academic Unit of Child Health, University of Sheffield, Sheffield S10 2TH, UK., Carlston CM; Associated Regional and University Pathologists Laboratories, Salt Lake City, UT 84108, USA; Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA., Carey JC; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84112, USA., Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham B15 2TT, UK., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Campeau PM; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T1J4, Canada., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: blee@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2019 Mar 07; Vol. 104 (3), pp. 422-438. Date of Electronic Publication: 2019 Feb 14.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Autor: Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address: pawels@bcm.edu., Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Slattery L; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA 94305, USA., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Vetrini F; Baylor Genetics, Houston, TX 77021, USA., Bernstein JA; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA 94305, USA., Brown CW; University of Tennessee Health Science Center, Memphis, TN 38163, USA; Le Bonheur Children's Hospital, Memphis, TN 38105, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Rednam S; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA., Scollon S; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA., Bergstrom KL; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA., Parsons DW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA., Plon SE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA., Vieira MW; PUCSP, Faculdade de Ciências Médicas e da Saúde, São Paulo 01221-020, Brazil., Quaio CRDC; Fleury Medicina e Saúde, São Paulo 04344-070, Brazil., Baratela WAR; Fleury Medicina e Saúde, São Paulo 04344-070, Brazil., Acosta Guio JC; Especialista en Genética Médica, Instituto de Ortopedia Infantil Roosevelt, 17-50 Bogotá, Cundinamarca, Colombia., Armstrong R; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Mehta SG; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Rump P; Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 AB Groningen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Lewandowski R; Virginia Commonwealth University, Richmond, VA 23298, USA., Fernandes EM; Virginia Commonwealth University, Richmond, VA 23298, USA., Shinde DN; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA., Tang S; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen 91054, Germany., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen 91054, Germany., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen 91054, Germany., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Breman AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Bostwick B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen 91054, Germany., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address: yapingy@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 Oct 05; Vol. 101 (4), pp. 503-515. Date of Electronic Publication: 2017 Sep 21.

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

Autor: Irving, Melita¹ (AUTHOR) Melita.Irving@gstt.nhs.uk, AlSayed, Moeenaldeen² (AUTHOR), Arundel, Paul³ (AUTHOR), Baujat, Geneviève⁴ (AUTHOR), Ben-Omran, Tawfeg⁵ (AUTHOR), Boero, Silvio⁶ (AUTHOR), Cormier-Daire, Valérie⁷ (AUTHOR), Fredwall, Svein⁸ (AUTHOR), Guillen-Navarro, Encarna⁹ (AUTHOR), Hoyer-Kuhn, Heike¹⁰ (AUTHOR), Kunkel, Philip¹¹ (AUTHOR), Lampe, Christian¹² (AUTHOR), Maghnie, Mohamad^13,14 (AUTHOR), Mohnike, Klaus¹⁵ (AUTHOR), Mortier, Geert¹⁶ (AUTHOR), Sousa, Sérgio B.¹⁷ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 7/27/2023, Vol. 18 Issue 1, p1-8. 8p.