Works matching AU Schwartz, Charles E.

Results: 94

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1036

By:

Cascio, Lauren;
Chen, Chin‐Fu;
Pauly, Rini;
Srikanth, Sujata;
Jones, Kelly;
Skinner, Cindy D.;
Stevenson, Roger E.;
Schwartz, Charles E.;
Boccuto, Luigi

Publication type:

Article

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.569

By:

Srivastava, Siddharth;
Niranjan, Tejasvi;
May, Melanie M.;
Tarpey, Patrick;
Allen, William;
Hackett, Anna;
Jouk, Pierre‐Simon;
Raymond, Lucy;
Briault, Slyvain;
Skinner, Cindy;
Toutain, Annick;
Gecz, Jozef;
Heath, William;
Stevenson, Roger E.;
Schwartz, Charles E.;
Wang, Tao

Publication type:

Article

X-Linked MCT8 Gene Mutations: Characterization of the Pediatric Neurologic Phenotype.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 10, p. 852, doi. 10.1177/08830738050200101601

By:

Holden, Kenton R.;
Zuñoga, Oscar F.;
May, Melani M.;
Su, Humberto;
Molinero, Marco R.;
Rogers, R. Curtis;
Schwartz, Charles E.

Publication type:

Article

Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree.

Published in:

Journal of International Medical Research, 2020, v. 48, n. 4, p. 1, doi. 10.1177/0300060519879293

By:

Funk, Christopher Ronald;
Huey, Elizabeth S.;
May, Melanie M.;
Yunhui Peng;
Michonova, Ekaterina;
Best, Robert G.;
Schwartz, Charles E.;
Blenda, Anna V.

Publication type:

Article

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0235-8

By:

Albert, Jessica S.;
Bhattacharyya, Nisan;
Wolfe, Lynne A.;
Bone, William P.;
Maduro, Valerie;
Accardi, John;
Adams, David R.;
Schwartz, Charles E.;
Norris, Joy;
Wood, Tim;
Gafni, Rachel I.;
Collins, Michael T.;
Tosi, Laura L.;
Markello, Thomas C.;
Gahl, William A.;
Boerkoel, Cornelius F.

Publication type:

Article

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

Published in:

2015

By:

Albert, Jessica S;
Bhattacharyya, Nisan;
Wolfe, Lynne A;
Bone, William P;
Maduro, Valerie;
Accardi, John;
Adams, David R;
Schwartz, Charles E;
Norris, Joy;
Wood, Tim;
Gafni, Rachel I;
Collins, Michael T;
Tosi, Laura L;
Markello, Thomas C;
Gahl, William A;
Boerkoel, Cornelius F

Publication type:

journal article

Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.

Published in:

Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207

By:

Field, Michael J.;
Kumar, Raman;
Hackett, Anna;
Kayumi, Sayaka;
Shoubridge, Cheryl A.;
Ewans, Lisa J.;
Ivancevic, Atma M.;
Dudding‐Byth, Tracy;
Carroll, Renée;
Kroes, Thessa;
Gardner, Alison E.;
Sullivan, Patricia;
Ha, Thuong T.;
Schwartz, Charles E.;
Cowley, Mark J.;
Dinger, Marcel E.;
Palmer, Elizabeth E.;
Christie, Louise;
Shaw, Marie;
Roscioli, Tony

Publication type:

Article

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02462-8

By:

Chong Li;
Brazill, Jennifer M.;
Sha Liu;
Bello, Christofer;
Yi Zhu;
Morimoto, Marie;
Cascio, Lauren;
Pauly, Rini;
Diaz-Perez, Zoraida;
Malicdan, May Christine V.;
Hongbo Wang;
Boccuto, Luigi;
Schwartz, Charles E.;
Gahl, William A.;
Boerkoel, Cornelius F.;
Zhai, R. Grace

Publication type:

Article

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Published in:

Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01289-7

By:

Chong Li;
Brazill, Jennifer M.;
Sha Liu;
Bello, Christofer;
Yi Zhu;
Morimoto, Marie;
Cascio, Lauren;
Pauly, Rini;
Diaz-Perez, Zoraida;
Malicdan, May Christine V.;
Hongbo Wang;
Boccuto, Luigi;
Schwartz, Charles E.;
Gahl, William A.;
Boerkoel, Cornelius F.;
Zhai, R. Grace

Publication type:

Article

BOOK NOTES.

Published in:

2000

By:

Schwartz, Charles E.;
Dutcher, Janice P.

Publication type:

Book Review

Parting Company (Book).

Published in:

2000

By:

Schwartz, Charles E.

Publication type:

Book Review

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.

Published in:

Autism Research: Official Journal of the International Society for Autism Research, 2009, v. 2, n. 4, p. 232, doi. 10.1002/aur.87

By:

Jackson, Pamela B.;
Boccuto, Luigi;
Skinner, Cindy;
Collins, Julianne S.;
Neri, Giovanni;
Gurrieri, Fiorella;
Schwartz, Charles E.

Publication type:

Article

Impact of cadaver dissection: Working toward solutions.

Published in:

Anatomical Sciences Education, 2008, v. 1, n. 6, p. 269, doi. 10.1002/ase.54

By:

Schwartz, Charles E.;
Downie, Sherry A.;
Fornari, Alice B.;
Olson, Todd R.

Publication type:

Article

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.

Published in:

Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2015.00083

By:

Long, Philip;
May, Melanie M.;
James, Victoria M.;
Grannò, Simone;
Johnson, John P.;
Tarpey, Patrick;
Stevenson, Roger E.;
Harvey, Kirsten;
Schwartz, Charles E.;
Harvey, Robert J.;
De Blas, Angel L.;
Bassani, Silvia

Publication type:

Article

Protein sector analysis for the clustering of disease-associated mutations.

Published in:

BMC Genomics, 2014, v. 15, p. 1, doi. 10.1186/1471-2164-15-S11-S4

By:

Guevara-Coto, Jose;
Schwartz, Charles E.;
Liangjiang Wang

Publication type:

Article

Linkage analysis of Von Recklinghausen neurofibromatosis: Chromosomes 4 and 19.

Published in:

Genetic Epidemiology, 1986, v. 3, n. 5, p. 313, doi. 10.1002/gepi.1370030504

By:

Dietz, Jeanne N.;
Robbins, Tim;
Cannon, Lisa A.;
Schwartz, Charles E.;
Carey, John C.;
Johnson, John P.;
Kivlin, Jane;
Skolnick, Mark H.;
Rao, D. C.

Publication type:

Article

X-linked creatine transporter ( SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

Published in:

Human Genetics, 2006, v. 119, n. 6, p. 604, doi. 10.1007/s00439-006-0162-9

By:

Clark, Amy J.;
Rosenberg, Efraim H.;
Almeida, Ligia S.;
Wood, Tim C.;
Jakobs, Cornelis;
Stevenson, Roger E.;
Schwartz, Charles E.;
Salomons, Gajja S.

Publication type:

Article

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2

By:

Hagens, Olivier;
Dubos, Aline;
Abidi, Fatima;
Barbi, Gotthold;
Van Zutven, Laura;
Hoeltzenbein, Maria;
Tommerup, Niels;
Moraine, Claude;
Fryns, Jean-Pierre;
Chelly, Jamel;
van Bokhoven, Hans;
Gécz, Jozef;
Dollfus, Hélène;
Ropers, Hans-Hilger;
Schwartz, Charles E.;
de Cassia Stocco dos Santos, Rita;
Kalscheuer, Vera;
Hanauer, André

Publication type:

Article

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 36, doi. 10.1007/s004390051006

By:

Friez, Michael J.;
Essop, Fahmida B.;
Krause, Amanda;
Castiglia, Lucia;
Ragusa, Angela;
Sossey-Alaoui, Khalid;
Nelson, Retecher L.;
May, Melanie M.;
Michaelis, Ron C.;
Srivastava, Anand K.;
Schwartz, Charles E.;
Stevenson, Roger E.;
Goldman, Andrea;
Villard, Laurent;
Longshore, John W.

Publication type:

Article

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 24, p. 4089, doi. 10.1093/hmg/ddz254

By:

Poeta, Loredana;
Padula, Agnese;
Attianese, Benedetta;
Valentino, Mariaelena;
Verrillo, Lucia;
Filosa, Stefania;
Shoubridge, Cheryl;
Barra, Adriano;
Schwartz, Charles E;
Christensen, Jesper;
Bokhoven, Hans van;
Helin, Kristian;
Lioi, Maria Brigida;
Collombat, Patrick;
Gecz, Jozef;
Altucci, Lucia;
Schiavi, Elia Di;
Miano, Maria Giuseppina

Publication type:

Article

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 4, p. 589, doi. 10.1093/hmg/ddx426

By:

Piard, Juliette;
Jia-Hua Hu;
Campeau, Philippe M.;
Rzońca, Sylwia;
Van Esch, Hilde;
Vincent, Elizabeth;
Mei Han;
Rossignol, Elsa;
Castaneda, Jennifer;
Chelly, Jamel;
Skinner, Cindy;
Kalscheuer, Vera M.;
Ruihua Wang;
Lemyre, Emmanuelle;
Kosińska, Joanna;
Stawinski, Piotr;
Bal, Jerzy;
Hoffman, Dax A.;
Schwartz, Charles E.;
Van Maldergem, Lionel

Publication type:

Article

Sleep Derivation and Performance of Residents.

Published in:

1989

By:

Schwartz, Charles E.

Publication type:

Letter

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.

Published in:

Clinical Genetics, 1995, v. 47, n. 2, p. 90, doi. 10.1111/j.1399-0004.1995.tb03930.x

By:

Marinoni, Jean-Christophe;
Stevenson, Roger E.;
Evans, James P.;
Geshuri, Dorrit;
Phelan, Mary C.;
Schwartz, Charles E.

Publication type:

Article

Using the polymerase chain reaction to maintain DNA probe inventories in clinical and diagnostic laboratories.

Published in:

Clinical Genetics, 1991, v. 39, n. 2, p. 121, doi. 10.1111/j.1399-0004.1991.tb02997.x

By:

Tarleton, Jack;
Schwartz, Charles E.

Publication type:

Article

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

Published in:

Nature Genetics, 2007, v. 39, n. 4, p. 451, doi. 10.1038/ng1992

By:

Risheg, Hiba;
Graham Jr., 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.

Publication type:

Article

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 487

By:

Robertson, Stephen P.;
Twigg, Stephen R.F.;
Sutherland-Smith, Andrew J.;
Biancalana, Valerie;
Gorlin, Robert J.;
Horn, Denise;
Kenwrick, Susan J.;
Kim, Chong A.;
Morava, Eva;
Newbury-Ecob, Ruth;
Orstavik, Karen H.;
Quarrell, Oliver W.J.;
Schwartz, Charles E.;
Shears, Deborah J.;
Suri, Mohnish;
Kendrick-Jones, John;
Bacino, C.;
Becker, K.;
Clayton-Smith, J.

Publication type:

Article

Personal journeys to and in human genetics and dysmorphology.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514

By:

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.

Publication type:

Article

X‐Linked intellectual disability update 2022.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 144, doi. 10.1002/ajmg.a.63008

By:

Schwartz, Charles E.;
Louie, Raymond J.;
Toutain, Annick;
Skinner, Cindy;
Friez, Michael J.;
Stevenson, Roger E.

Publication type:

Article

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1391, doi. 10.1093/brain/awq071

By:

Garbern, James Y.;
Neumann, Manuela;
Trojanowski, John Q.;
Lee, Virginia M.-Y.;
Feldman, Gerald;
Norris, Joy W.;
Friez, Michael J.;
Schwartz, Charles E.;
Stevenson, Roger;
Sima, Anders A. F.

Publication type:

Article

DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families.

Published in:

Behavioral & Brain Functions, 2012, v. 8, n. 1, p. 19, doi. 10.1186/1744-9081-8-19

By:

Hettinger, Joe A.;
Liu;
Hudson, Melissa L.;
Lee, Alana;
Cohen, Ira L.;
Michaelis, Ron C.;
Schwartz, Charles E.;
Lewis, Suzanne M. E.;
Holden, Jeanette J. A.

Publication type:

Article

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 1, doi. 10.1186/1471-2350-8-48

By:

Kumar, Ravinesh A.;
Everman, David B.;
Morgan, Chad T.;
Slavotinek, Anne;
Schwartz, Charles E.;
Simpson, Elizabeth M.

Publication type:

Article

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 16, doi. 10.1186/1471-2350-6-16

By:

Stepp, Monica L;
Cason, A Lauren;
Finnis, Merran;
Mangelsdorf, Marie;
Holinski-Feder, Elke;
Macgregor, David;
MacMillan, Andree;
Holden, Jeanette JA;
Gecz, Jozef;
Stevenson, Roger E;
Schwartz, Charles E

Publication type:

Article

Skewed X-inactivation and Females with Intellectual Disability.

Published in:

Human Mutation, 2016, v. 37, n. 8, p. 717, doi. 10.1002/humu.23030

By:

Schwartz, Charles E.

Publication type:

Article

Computational analysis of missense mutations causing Snyder-Robinson syndrome.

Published in:

Human Mutation, 2010, v. 31, n. 9, p. 1043, doi. 10.1002/humu.21310

By:

Zhang, Zhe;
Teng, Shaolei;
Wang, Liangjiang;
Schwartz, Charles E.;
Alexov, Emil

Publication type:

Article

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

Published in:

Human Mutation, 2010, v. 31, n. 1, p. 90, doi. 10.1002/humu.21146

By:

Musante, Luciana;
Kunde, Stella-Amrei;
Sulistio, Tina O.;
Fischer, Ute;
Grimme, Astrid;
Frints, Suzanna G.M.;
Schwartz, Charles E.;
Martínez, Francisco;
Romano, Corrado;
Ropers, Hans-Hilger;
Kalscheuer, Vera M.

Publication type:

Article

Functional characterization of missense variants in the creatine transporter gene ( SLC6A8): improved diagnostic application.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 890, doi. 10.1002/humu.20532

By:

Rosenberg, Efraim H.;
Martínez Muñoz, Cristina;
Betsalel, Ofir T.;
van Dooren, Silvy J.M.;
Fernandez, Matilde;
Jakobs, Cornelis;
deGrauw, Ton J.;
Kleefstra, Tjitske;
Schwartz, Charles E.;
Salomons, Gajja S.

Publication type:

Article

Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 582, doi. 10.1002/humu.20048

By:

Chang, Eugene H.;
Menezes, Maithilee;
Meyer, Nicole C.;
Cucci, Robert A.;
Vervoort, Virginie S.;
Schwartz, Charles E.;
Smith, Richard J.H.

Publication type:

Article

Mutations in the X-linked RSK2 gene ( RPS6KA3) in patients with Coffin-Lowry syndrome.

Published in:

Human Mutation, 2001, v. 17, n. 2, p. 103, doi. 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N

By:

Delaunoy, Jean-Pierre;
Abidi, Fatima;
Zeniou, Maria;
Jacquot, Sylvie;
Merienne, Karine;
Pannetier, Solange;
Schmitt, Michèle;
Schwartz, Charles E.;
Hanauer, André

Publication type:

Article

Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 222, doi. 10.1002/(SICI)1098-1004(1998)11:3<222::AID-HUMU7>3.0.CO;2-J

By:

Du, Yang-Zhu;
Srivastava, Anand K.;
Schwartz, Charles E.

Publication type:

Article

Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.

Published in:

Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0168-2

By:

Oc-Hee Kim;
Hyun-Ju Cho;
Han, Enna;
Ted Inpyo Hong;
Ariyasiri, Krishan;
Jung-Hwa Choi;
Kyu-Seok Hwang;
Yun-Mi Jeong;
Se-Yeol Yang;
Kweon Yu;
Doo-Sang Park;
Hyun-Woo Oh;
Davis, Erica E.;
Schwartz, Charles E.;
Jeong-Soo Lee;
Hyung-Goo Kim;
Cheol-Hee Kim

Publication type:

Article

Decreased tryptophan metabolism in patients with autism spectrum disorders.

Published in:

Molecular Autism, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2040-2392-4-16

By:

Luigi Boccuto;
Chin-Fu Chen;
Ayla R. Pittman;
Cindy D. Skinner;
Heather J. McCartney;
Kelly Jones;
Barry R. Bochner;
Roger E. Stevenson;
Charles E. Schwartz

Publication type:

Article

PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism.

Published in:

Molecular Autism, 2010, v. 1, n. 1, p. 1, doi. 10.1186/2040-2392-1-14

By:

Satterfield, Brent C.;
Garcia, Rebecca A.;
Gurrieri, Fiorella;
Schwartz, Charles E.

Publication type:

Article

Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders.

Published in:

Medical Sciences, 2023, v. 11, n. 2, p. 29, doi. 10.3390/medsci11020029

By:

Michael, Julianne;
VanSickle, Elizabeth;
Vipond, Marlie;
Dalman, Abby;
Prokop, Jeremy;
Schwartz, Charles E.;
Rajasekaran, Surender;
Bachmann, André S.;
Barth, Magalie;
Prouteau, Clément;
Almagor, Yotam;
Berkun, Lina;
Alterescu, Gheona;
Bupp, Caleb P.

Publication type:

Article

Polyamine Homeostasis in Snyder-Robinson Syndrome.

Published in:

Medical Sciences, 2018, v. 6, n. 4, p. 112, doi. 10.3390/medsci6040112

By:

Murray-Stewart, Tracy;
Dunworth, Matthew;
Foley, Jackson R.;
Schwartz, Charles E.;
Casero, Robert A.

Publication type:

Article

A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 9, p. 627, doi. 10.1038/jhg.2010.70

By:

Yilmaz, Ahmet;
Hamel, Nancy;
Schwartz, Charles E;
Houlston, Richard S;
Harper, John I;
Foulkes, William D

Publication type:

Article

In search of the earliest images of symmelia in works of art.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 151, doi. 10.1002/ajmg.c.31856

By:

Schwartz, Charles E.;
Stevenson, Roger E.

Publication type:

Article

Letters.

Published in:

1994

By:

Mensah, George A.;
Cooper, Richard S.;
Liao, Youlian;
Terrin, Michael L.;
Knatterud, Genell;
Sack, Michael N.;
Hoeg, Jeffrey M.;
Moore, J.G.;
Schwartz, Charles E.;
Prod'hom, Guy;
Blum, Andre;
Fraacioli, Patrick;
Woolf, Fredric M.;
Irwig, Les;
Tosteson, Anna N.;
Gatsonis, Constantine;
Mok, C.C.;
Tam, S.C.F.;
Kwong, Y.L.

Publication type:

Letter

Community outreach to patients with AIDS at the end of life in the inner city: reflections from the trenches.

Published in:

2004

By:

LA FOSSE, HECTOR;
SCHWARTZ, CHARLES E.;
CARABALLO, ROSA J.;
GOEREN, WILLIAM;
SELWYN, PETER A.

Publication type:

journal article

Finding new etiologies of mental retardation and hypotonia: X marks the spot.

Published in:

Developmental Medicine & Child Neurology, 2008, v. 50, n. 2, p. 104, doi. 10.1111/j.1469-8749.2007.02022.x

By:

Rogers, R. Curtis;
Stevenson, Roger E.;
Simensen, Richard J.;
Holden, Kenton R.;
Schwartz, Charles E.

Publication type:

Article

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10712, doi. 10.3390/ijms241310712

By:

Godler, David E.;
Inaba, Yoshimi;
Bui, Minh Q.;
Francis, David;
Skinner, Cindy;
Schwartz, Charles E.;
Amor, David J.

Publication type:

Article