Pesquisa | Secretaria de Estado da Saúde

1.

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Lupiáñez, Darío G; Kraft, Katerina; Heinrich, Verena; Krawitz, Peter; Brancati, Francesco; Klopocki, Eva; Horn, Denise; Kayserili, Hülya; Opitz, John M; Laxova, Renata; Santos-Simarro, Fernando; Gilbert-Dussardier, Brigitte; Wittler, Lars; Borschiwer, Marina; Haas, Stefan A; Osterwalder, Marco; Franke, Martin; Timmermann, Bernd; Hecht, Jochen; Spielmann, Malte; Visel, Axel; Mundlos, Stefan.

Cell ; 161(5): 1012-1025, 2015 May 21.

Artigo Inglês | MEDLINE | ID: mdl-25959774

2.

Personal journeys to and in human genetics and dysmorphology.

Schwartz, Charles E; Aylsworth, Arthur S; Allanson, Judith; Battaglia, Agatino; Carey, John C; Curry, Cynthia J; Davies, Kay E; Eichler, Evan E; Graham, John M; Hall, Bryan; Hall, Judith G; Holmes, Lewis B; Hoyme, H Eugene; Hunter, Alasdair; Innis, Jeffrey; Johnson, John; Keppler-Noreuil, Kim M; Leroy, Jules G; Moore, Cynthia; Nelson, David L; Neri, Giovanni; Opitz, John M; Picketts, David; Raymond, F Lucy; Shalev, Stavit Allon; Stevenson, Roger E; Stumpel, Connie T R M; Sutherland, Grant; Viskochil, David H; Weaver, David D; Zackai, Elaine H.

Am J Med Genet A ; 194(6): e63514, 2024 Jun.

Artigo Inglês | MEDLINE | ID: mdl-38329159

3.

Evolution in the clinic: Maladaptive units and "minor anomalies".

Carey, John C; Opitz, John M.

Am J Med Genet A ; 191(2): 640-646, 2023 02.

Artigo Inglês | MEDLINE | ID: mdl-36331276

4.

Santos syndrome is caused by mutation in the WNT7A gene.

Alves, Leandro U; Santos, Silvana; Musso, Camila M; Ezquina, Suzana Am; Opitz, John M; Kok, Fernando; Otto, Paulo A; Mingroni-Netto, Regina C.

J Hum Genet ; 62(12): 1073-1078, 2017 Dec.

Artigo Inglês | MEDLINE | ID: mdl-28855715

5.

Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysis.

Christensen, Erik D; Berger, Justin; Alashari, Mouied M; Coon, Hilary; Robison, Cynthia; Ho, Hsu-Tso; Adams, David R; Gahl, Willian A; Smith, Ken R; Opitz, John M; Johnson, Dennis R.

Am J Med Genet A ; 173(1): 177-182, 2017 Jan.

Artigo Inglês | MEDLINE | ID: mdl-27792857

6.

Annals of morphology fields and prepatterns. Editorial Festschrift for John C. Carey, MD, MPH.

Opitz, John M.

Am J Med Genet A ; 170(10): 2503-22, 2016 10.

Artigo Inglês | MEDLINE | ID: mdl-27420032

7.

Living history biography: An afterthought.

Opitz, John M.

Am J Med Genet A ; 185(5): 1355-1362, 2021 05.

Artigo Inglês | MEDLINE | ID: mdl-33683005

8.

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

Urreizti, Roser; Roca-Ayats, Neus; Trepat, Judith; Garcia-Garcia, Francisco; Aleman, Alejandro; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Opitz, John M; Dopazo, Joaquin; Cormand, Bru; Vilageliu, Lluïsa; Balcells, Susana; Grinberg, Daniel.

Am J Med Genet A ; 170A(1): 24-31, 2016 Jan.

Artigo Inglês | MEDLINE | ID: mdl-26768331

9.

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Risheg, Hiba; Graham, John M; Clark, Robin D; Rogers, R Curtis; Opitz, John M; Moeschler, John B; Peiffer, Andreas P; May, Melanie; Joseph, Sumy M; Jones, Julie R; Stevenson, Roger E; Schwartz, Charles E; Friez, Michael J.

Nat Genet ; 39(4): 451-3, 2007 Apr.

Artigo Inglês | MEDLINE | ID: mdl-17334363

10.

Jacqueline A. Noonan.

Opitz, John M.

Am J Med Genet A ; 182(12): 2820-2822, 2020 12.

Artigo Inglês | MEDLINE | ID: mdl-33098331

11.

ADAM "sequence" part II: hypothesis and speculation.

Opitz, John M; Johnson, Dennis R; Gilbert-Barness, Enid F.

Am J Med Genet A ; 167A(3): 478-503, 2015 Mar.

Artigo Inglês | MEDLINE | ID: mdl-25604972

12.

Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.

Opitz, John M.

Am J Med Genet C Semin Med Genet ; 166C(4): 387-96, 2014 Dec.

Artigo Inglês | MEDLINE | ID: mdl-25424868

13.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Rope, Alan F; Wang, Kai; Evjenth, Rune; Xing, Jinchuan; Johnston, Jennifer J; Swensen, Jeffrey J; Johnson, W Evan; Moore, Barry; Huff, Chad D; Bird, Lynne M; Carey, John C; Opitz, John M; Stevens, Cathy A; Jiang, Tao; Schank, Christa; Fain, Heidi Deborah; Robison, Reid; Dalley, Brian; Chin, Steven; South, Sarah T; Pysher, Theodore J; Jorde, Lynn B; Hakonarson, Hakon; Lillehaug, Johan R; Biesecker, Leslie G; Yandell, Mark; Arnesen, Thomas; Lyon, Gholson J.

Am J Hum Genet ; 89(1): 28-43, 2011 Jul 15.

Artigo Inglês | MEDLINE | ID: mdl-21700266

14.

Philip D. Pallister of Montana.

Opitz, John M; Mullen, Pierce; Elias, Abdallah F.

Am J Med Genet A ; 179(1): 9-12, 2019 01.

Artigo Inglês | MEDLINE | ID: mdl-30569546

15.

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Swoboda, Kathryn J; Margraf, Rebecca L; Carey, John C; Zhou, Holly; Newcomb, Tara M; Coonrod, Emily; Durtschi, Jacob; Mallempati, Kalyan; Kumanovics, Attila; Katz, Ben E; Voelkerding, Karl V; Opitz, John M.

Am J Med Genet A ; 164A(1): 17-28, 2014 Jan.

Artigo Inglês | MEDLINE | ID: mdl-24259288

16.

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Pierce, Sarah B; Chisholm, Karen M; Lynch, Eric D; Lee, Ming K; Walsh, Tom; Opitz, John M; Li, Weiqing; Klevit, Rachel E; King, Mary-Claire.

Proc Natl Acad Sci U S A ; 108(16): 6543-8, 2011 Apr 19.

Artigo Inglês | MEDLINE | ID: mdl-21464306

17.

The Work of Becerra-Solano et al. (2008) on Amniotic Disruption-Adhesion-Mutilation (ADAM or DAB) Sequence Deserves Comment.

Opitz, John M.

Fetal Pediatr Pathol ; 38(1): 91-92, 2019 02.

Artigo Inglês | MEDLINE | ID: mdl-30614362

18.

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Pierce, Sarah B; Walsh, Tom; Chisholm, Karen M; Lee, Ming K; Thornton, Anne M; Fiumara, Agata; Opitz, John M; Levy-Lahad, Ephrat; Klevit, Rachel E; King, Mary-Claire.

Am J Hum Genet ; 87(2): 282-8, 2010 Aug 13.

Artigo Inglês | MEDLINE | ID: mdl-20673864

19.

Arno G. Motulsky, 1923-2018, Luck and Service.

Opitz, John M.

Am J Med Genet A ; 176(6): 1285-1288, 2018 Jun.

Artigo Inglês | MEDLINE | ID: mdl-29696759

20.

Annals of morphology. Atavisms: phylogenetic Lazarus?

Zanni, Ginevra; Opitz, John M.

Am J Med Genet A ; 161A(11): 2822-35, 2013 Nov.

Artigo Inglês | MEDLINE | ID: mdl-24166815

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Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Personal journeys to and in human genetics and dysmorphology.

Evolution in the clinic: Maladaptive units and "minor anomalies".

Santos syndrome is caused by mutation in the WNT7A gene.

Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysis.

Annals of morphology fields and prepatterns. Editorial Festschrift for John C. Carey, MD, MPH.

Living history biography: An afterthought.

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Jacqueline A. Noonan.

ADAM "sequence" part II: hypothesis and speculation.

Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Philip D. Pallister of Montana.

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

The Work of Becerra-Solano et al. (2008) on Amniotic Disruption-Adhesion-Mutilation (ADAM or DAB) Sequence Deserves Comment.

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Arno G. Motulsky, 1923-2018, Luck and Service.

Annals of morphology. Atavisms: phylogenetic Lazarus?