Works matching Human abnormality genetics

Results: 335

Genetic abnormalities of the human β2 adrenergic receptor.

Published in:

Clinical & Experimental Allergy, 1995, v. 25, n. 7, p. 596, doi. 10.1111/j.1365-2222.1995.tb01106.x

By:

Potter, P. C.

Publication type:

Article

Insight into the genetic cause underlying Kabuki syndrome.

Published in:

Clinical Genetics, 2011, v. 79, n. 2, p. 133, doi. 10.1111/j.1399-0004.2010.01586.x

By:

Ladha, S.

Publication type:

Article

Sequence of Events Leading to Medical Abortion for Fetal Indications after 34 Weeks' Gestation: 23 Years of Experience in a Single Medical Center.

Published in:

Fetal Diagnosis & Therapy, 2025, v. 52, n. 3, p. 262, doi. 10.1159/000540674

By:

Pekar Zlotin, Marina;
Nehama Berman, Yael;
Melcer, Yaacovone;
Cuckle, Howard;
Maymon, Ron

Publication type:

Article

Sanjad Sakati syndrome: a case series from Jordan.

Published in:

Eastern Mediterranean Health Journal, 2012, v. 18, n. 5, p. 527, doi. 10.26719/2012.18.5.527

By:

Albaramki, J.;
Akl, K.;
Al- Muhtaseb, A.;
Al-Shboul, M.;
Mahmoud, T.;
El-Khateeb, M.;
Hamamy, H.

Publication type:

Article

Correction to: An epigenetic association of malformations, adverse reproductive outcomes, and fetal origins hypothesis related effects.

Published in:

2018

By:

Lubinsky, Mark

Publication type:

Correction Notice

An epigenetic association of malformations, adverse reproductive outcomes, and fetal origins hypothesis related effects.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 953, doi. 10.1007/s10815-018-1197-2

By:

Lubinsky, Mark

Publication type:

Article

Dental Management of Heritable Dental Developmental Anomalies.

Published in:: Pediatric Dentistry, 2017, v. 39, n. 6, p. 348
Publication type:: Article

Colony-stimulating factors in inflammation and autoimmunity.

Published in:

Nature Reviews Immunology, 2008, v. 8, n. 7, p. 533, doi. 10.1038/nri2356

By:

Hamilton, John A.

Publication type:

Article

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.

Published in:

Clinical & Experimental Dermatology, 2016, v. 41, n. 8, p. 884, doi. 10.1111/ced.12934

By:

Kasparis, C.;
Reid, D.;
Wilson, N. J.;
Okur, V.;
Cole, C.;
Hansen, C. D.;
Bosse, K.;
Betz, R. C.;
Khan, M.;
Smith, F. J. D.

Publication type:

Article

p53 genetic abnormalities and myc activation in human lung carcinoma.

Published in:

International Journal of Cancer, 1994, v. 58, n. 1, p. 24, doi. 10.1002/ijc.2910580106

By:

Gazzeri, Sylvie;
Brambilla, Elisabeth;
De Fromentel, Claude Caron;
Gouyer, Valérie;
Moro, Denis;
Perron, Pascal;
Berger, François;
Brambilla, Christian

Publication type:

Article

A pure likelihood approach to the analysis of genetic association data: an alternative to Bayesian and frequentist analysis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 8, p. 933, doi. 10.1038/ejhg.2010.47

By:

Strug, Lisa J.;
Hodge, Susan E.;
Chiang, Theodore;
Pal, Deb K.;
Corey, Paul N.;
Rohde, Charles

Publication type:

Article

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201100

By:

Regis, Stefano;
Corsolini, Fabio;
Ricci, Verena;
Di Duca, Marco;
Filocamo, Mirella

Publication type:

Article

Confidentiality and serious harm in genetics - preserving the confidentiality of one patient and preventing harm to relatives.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 93, doi. 10.1038/sj.ejhg.5201118

By:

Lucassen, Anneke;
Parker, Michael

Publication type:

Article

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 89, doi. 10.1038/sj.ejhg.5200907

By:

Anderlid, Britt-Marie;
Schoumans, Jacqueline;
Hallqvist, Åsa;
Ståhl, Ylva;
Wallin, Agneta;
Blennow, Elisabeth;
Nordenskjöld, Magnus

Publication type:

Article

New protocol based on massive parallel sequencing for aneuploidy screening of preimplantation human embryos.

Published in:

Systems Biology in Reproductive Medicine, 2017, v. 63, n. 3, p. 162, doi. 10.1080/19396368.2017.1312633

By:

Vendrell, Xavier;
Fernández-Pedrosa, Victoria;
Triviño, Juan Carlos;
Bautista-Llácer, Rosa;
Collado, Carmen;
Rodríguez, Oscar;
García-Mengual, Elena;
Ferrer, Empar;
Calatayud, Carmen;
Ruiz-Jorro, Miguel

Publication type:

Article

Genética de la obesidad.

Published in:

Boletín Médico del Hospital Infantil de México, 2008, v. 65, n. 6, p. 441

By:

Tejero, María Elizabeth

Publication type:

Article

Genetic abnormalities/syndromes significantly impact perioperative outcomes of conotruncal heart defects.

Published in:

Annals of Pediatric Cardiology, 2020, v. 13, n. 1, p. 38, doi. 10.4103/apc.APC_51_19

By:

Lahiri, Subhrajit;
Gil, Wernovsky;
Daria, Salyakina;
Joshua, Gruber;
Parul, Jayakar;
Redmond, Burke;
Elizabeth, Welch

Publication type:

Article

TWO NOVEL HETEROZYGOUS MISSENSE VARIATIONS WITHIN THE GLI2 GENE IN TWO UNRELATED ARGENTINE PATIENTS.

Published in:

Medicina (Buenos Aires), 2016, v. 76, n. 4, p. 213

By:

JUANES, MATÍAS;
DI PALMA, ISABEL;
CIACCIO, MARTA;
MARINO, ROXANA;
RAMÍREZ, PABLO C.;
GARRID, NATALIA PÉREZ;
MACEIRAS, MERCEDES;
LAZZATI, JUAN M.;
RIVAROLA, MARCO A.;
BELGOROSKY, ALICIA

Publication type:

Article

Zahnentwicklung und Zahnanomalien in der Humangenetik.

Published in:

Medizinische Genetik, 2007, v. 19, n. 4, p. 391, doi. 10.1007/s11825-007-0046-y

By:

Zschocke, J.

Publication type:

Article

Destroying newborn blood samples threatens birth defect research.

Published in:

Nature Medicine, 2010, v. 16, n. 2, p. 140, doi. 10.1038/nm0210-140a

By:

May, Mike

Publication type:

Article

Chaos in the embryo.

Published in:

Nature Medicine, 2009, v. 15, n. 5, p. 490, doi. 10.1038/nm0509-490

By:

Ledbetter, David H.

Publication type:

Article

Germline deletion of the miR-17?92 cluster causes skeletal and growth defects in humans.

Published in:

Nature Genetics, 2011, v. 43, n. 10, p. 1026, doi. 10.1038/ng.915

By:

de Pontual, Loïc;
Yao, Evelyn;
Callier, Patrick;
Faivre, Laurence;
Drouin, Valérie;
Cariou, Sandra;
Van Haeringen, Arie;
Geneviève, David;
Goldenberg, Alice;
Oufadem, Myriam;
Manouvrier, Sylvie;
Munnich, Arnold;
Vidigal, Joana Alves;
Vekemans, Michel;
Lyonnet, Stanislas;
Henrion-Caude, Alexandra;
Ventura, Andrea;
Amiel, Jeanne

Publication type:

Article

Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

Published in:

Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775

By:

Bicknell, Louise S.;
Bongers, Ernie M. H. F.;
Leitch, Andrea;
Brown, Stephen;
Schoots, Jeroen;
Harley, Margaret E.;
Aftimos, Salim;
Al-Aama, Jumana Y.;
Bober, Michael;
Brown, Paul A. J.;
van Bokhoven, Hans;
Dean, John;
Edrees, Alaa Y.;
Feingold, Murray;
Fryer, Alan;
Hoefsloot, Lies H;
Kau, Nikolaus;
Knoers, Nine V. A. M.;
MacKenzie, James;
Opitz, John M.

Publication type:

Article

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.

Published in:

Nature Genetics, 2011, v. 43, n. 4, p. 360, doi. 10.1038/ng.777

By:

Guernsey, Duane L.;
Matsuoka, Makoto;
Jiang, Haiyan;
Evans, Susan;
Macgillivray, Christine;
Nightingale, Mathew;
Perry, Scott;
Ferguson, Meghan;
LeBlanc, Marissa;
Paquette, Jean;
Patry, Lysanne;
Rideout, Andrea L.;
Thomas, Aidan;
Orr, Andrew;
McMaster, Chris R.;
Michaud, Jacques L.;
Deal, Cheri;
Langlois, Sylvie;
Superneau, Duane W.;
Parkash, Sandhya

Publication type:

Article

Kidney stone and urinary bladder telangiectasia in a patient with TAR syndrome.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 5, p. 509

By:

Akil, İpek;
Gözmen, Salih;
Yilmaz, Ömer;
Taneli, Can

Publication type:

Article

Malformaciones Congénitas: Aspectos Generales y Genéticos.

Published in:

International Journal of Morphology, 2012, v. 30, n. 4, p. 1255, doi. 10.4067/S0717-95022012000400003

By:

Rojas, Mariana;
Walker, Laura

Publication type:

Article

A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum.

Published in:

Cytogenetic & Genome Research, 2010, v. 132, n. 3, p. 135, doi. 10.1159/000321577

By:

Backx, L.;
Seuntjens, E.;
Devriendt, K.;
Vermeesch, J.;
van Esch, H.

Publication type:

Article

Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male.

Published in:

Cytogenetic & Genome Research, 2007, v. 118, n. 1, p. 38, doi. 10.1159/000106439

By:

Baumer, A.;
Basaran, S.;
Taralczak, M.;
Cefle, K.;
Ozturk, S.;
Palanduz, S.;
Schinzel, A.

Publication type:

Article

Immune selective pressure and HLA class I antigen defects in malignant lesions.

Published in:

Cancer Immunology, Immunotherapy, 2007, v. 56, n. 2, p. 227, doi. 10.1007/s00262-006-0183-1

By:

Chang, Chien-Chung;
Ferrone, Soldano

Publication type:

Article

A Note on Angiogenesis.

Published in:

Journal of Dermatologic Surgery & Oncology, 1978, v. 4, n. 11, p. 827, doi. 10.1111/j.1524-4725.1978.tb00559.x

By:

Leider, Morris

Publication type:

Article

Genetic Influences on Hallux Valgus in Koreans: The Healthy Twin Study.

Published in:

Twin Research & Human Genetics, 2014, v. 17, n. 2, p. 121, doi. 10.1017/thg.2014.10

By:

Lee, Chang-Hyung;
Lee, Sooji;
Kang, HyoJeong;
Jung, Da-Eun;
Song, Yun-Mi;
Lee, Kayoung;
Lee, Kyungtai;
Hwang, JiHye;
Sung, Joohon

Publication type:

Article

Systematic review of Kabuki Syndrome's phenotype with KMT2D gene mutation.

Published in:

RevInter, 2019, v. 12, n. 1, p. 60, doi. 10.22280/revintervol12ed1.426

By:

Bonini Fischetti, Leonardo;
Zaccarelli Magalhães, Julia;
Rinaldi Fukushima, André;
Waziry, Paula;
Lopes Ricci, Esther

Publication type:

Article

AutomiG, a Biosensor to Detect Alterations in miRNA Biogenesis and in Small RNA Silencing Guided by Perfect Target Complementarity.

Published in:

PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074296

By:

Carré, Clément;
Jacquier, Caroline;
Bougé, Anne-Laure;
de Chaumont, Fabrice;
Besnard-Guerin, Corinne;
Thomassin, Hélène;
Pidoux, Josette;
Da Silva, Bruno;
Chalatsi, Eleftheria;
Zahra, Sarah;
Olivo-Marin, Jean-Christophe;
Munier-Lehmann, Hélène;
Antoniewski, Christophe

Publication type:

Article

Ambient Air Pollution and Birth Defects in Brisbane, Australia.

Published in:

PLoS ONE, 2009, v. 4, n. 4, p. 1, doi. 10.1371/journal.pone.0005408

By:

Hansen, Craig A.;
Barnett, Adrian G.;
Jalaludin, Bin B.;
Morgan, Geoffrey G.

Publication type:

Article

Adherent Monomer-Misfolded SOD1.

Published in:

PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003497

By:

Watanabe, Yasuhiro;
Morita, Eri;
Fukada, Yasuyo;
Doi, Koji;
Yasui, Kenichi;
Kitayama, Michio;
Nakano, Toshiya;
Nakashima, Kenji

Publication type:

Article

The science bit.

Published in:

Nursing Standard, 2004, v. 18, n. 23, p. 23, doi. 10.7748/ns.18.23.23.s33

By:

Newnham, David

Publication type:

Article

Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design.

Published in:

2018

By:

Maruani, Annabel;
Boccara, Olivia;
Bessis, Didier;
Guibaud, Laurent;
Vabres, Pierre;
Mazereeuw-Hautier, Juliette;
Barbarot, Sébastien;
Chiaverini, Christine;
Blaise, Sophie;
Droitcourt, Catherine;
Mallet, Stéphanie;
Martin, Ludovic;
Lorette, Gérard;
Woillard, Jean-Baptiste;
Jonville-Bera, Annie-Pierre;
Rollin, Jérome;
Gruel, Yves;
Herbreteau, Denis;
Goga, Dominique;
le Touze, Anne

Publication type:

journal article

Chronic eosinophilic leukaemia—Not otherwise specified: Clinical features, genomic insight and therapeutic strategies.

Published in:

British Journal of Haematology, 2025, v. 206, n. 1, p. 44, doi. 10.1111/bjh.19921

By:

Costa, Alessandro;
Scalzulli, Emilia;
Breccia, Massimo

Publication type:

Article

Copy number alterations in pediatric B-cell precursor acute lymphoblastic leukemia patients and their association with patients' outcome.

Published in:

Annals of Hematology, 2025, v. 104, n. 3, p. 1821, doi. 10.1007/s00277-024-06102-2

By:

Abdelfattah, Nesma E.;
Elsayed, Ghada M.;
Soliman, Amira H.;
Ebeid, Emad N.;
El Ashry, Mona S.

Publication type:

Article

Significance of targeting DNMT3A mutations in AML.

Published in:

Annals of Hematology, 2025, v. 104, n. 3, p. 1399, doi. 10.1007/s00277-024-05885-8

By:

Huang, Guiqin;
Cai, Xiaoya;
Li, Dengju

Publication type:

Article

A rare case of splenic marginal zone lymphoma with MYD88 mutation transformed into diffuse large B-cell lymphoma: case report and literature review.

Published in:

Annals of Hematology, 2025, v. 104, n. 2, p. 1269, doi. 10.1007/s00277-024-06080-5

By:

Chen, Yuzhan;
Chen, Ting;
Fan, Shufang;
Mu, Qitian;
Ouyang, Guifang

Publication type:

Article

Genetic abnormalities predict outcomes in patients with core binding factor acute myeloid leukemia.

Published in:

Annals of Hematology, 2025, v. 104, n. 2, p. 997, doi. 10.1007/s00277-024-06182-0

By:

Yu, Shunjie;
Yang, Sen;
Hu, Lijuan;
Duan, Wenbing;
Zhao, Ting;
Qin, Yazhen;
Wang, Yazhe;
Lai, Yueyun;
Shi, Hongxia;
Tang, Feifei;
Sun, Yuqian;
Jia, Jinsong;
Wang, Jing;
Lu, Shengye;
Fu, Qiang;
Jiang, Hao;
Xu, Lanping;
Wang, Yu;
Zhang, Xiaohui;
Huang, Xiaojun

Publication type:

Article

Congenital cholesteatoma of mastoid region manifesting as acute mastoiditis: case report and literature review.

Published in:

2010

By:

HIDAKA, H.;
ISHIDA, E.;
KAKU, K.;
NISHIKAWA, H.;
KOBAYASHI, T.

Publication type:

Case Study

Can genomics conquer genetic diseases?

Published in:

Chemistry & Industry, 2010, n. 17, p. 14

By:

Dorey, Emma

Publication type:

Article

Genetic studies of myelomeningocele.

Published in:

Child's Nervous System, 2013, v. 29, n. 9, p. 1417, doi. 10.1007/s00381-013-2197-2

By:

Shimoji, Kazuaki;
Kimura, Takaoki;
Kondo, Akihide;
Tange, Yuichi;
Miyajima, Masakazu;
Arai, Hajime

Publication type:

Article

Testimony in Support of Indiana Senate Bill 334, a Bill to Prohibit Prenatal Discrimination by Prohibiting Abortion Based on Sex Selection or Genetic Abnormality.

Published in:

2017

By:

Prentice, David A.

Publication type:

Speech

Arab gene geography: From population diversities to personalized medical genomics.

Published in:

Global Cardiology Science & Practice, 2014, v. 2014, n. 4, p. 238, doi. 10.5339/gcsp.2014.54

By:

Tadmouri, Ghazi O.;
Sastry, Konduru S.;
Chouchane, Lotfi

Publication type:

Article

Insulin resistance does not affect early embryo development but lowers implantation rate in in vitro maturation- in vitro fertilization-embryo transfer cycle.

Published in:

Clinical Endocrinology, 2013, v. 79, n. 1, p. 93, doi. 10.1111/cen.12099

By:

Chang, Eun M.;
Han, Ji E.;
Seok, Hyun H.;
Lee, Dong R.;
Yoon, Tae K.;
Lee, Woo S.

Publication type:

Article

Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.

Published in:

Pediatric Dermatology, 2016, v. 33, n. 1, p. e40, doi. 10.1111/pde.12727

By:

Mehmood, Sabba;
Shah, Sayed Hajan;
Jan, Abid;
Younus, Muhammad;
Ahmad, Farooq;
Ayub, Muhammad;
Ahmad, Wasim

Publication type:

Article

Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 11, p. 591, doi. 10.1038/jhg.2014.83

By:

Wakui, Keiko

Publication type:

Article