Works matching Human abnormality genetics

Results: 338

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

Exploration of common pathogenic genes between cerebral amyloid angiopathy and insomnia based on bioinformatics and experimental validation.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-12553-y

By:

Li, Xin-Yu;
Li, Kun;
Wei, Yi-Han;
Yu, Wen-Kai;
Wu, Jing-Hao;
Gao, Kai;
He, Wen-Jun;
Niu, Peng-Peng;
Zhang, Chan;
Cheng, Yu-Nan;
Li, Yu-Sheng

Publication type:

Article

Cleft lip Sidedness and the Association with Additional Congenital Malformations.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 9, p. 1504, doi. 10.1177/10556656241261918

By:

Fell, Matthew;
Fitzsimons, Kate J.;
Hamilton, Mark J.;
Medina, Jibby;
Butterworth, Sophie;
Park, Min Hae;
Van der Meulen, Jan;
Lewis, Sarah;
Chong, David;
Russell, Craig JH

Publication type:

Article

Balancing Needs and Autonomy: The Involvement of Pregnant Women's Partners in Decisions About cfDNA.

Published in:

Qualitative Health Research, 2019, v. 29, n. 2, p. 211, doi. 10.1177/1049732318796833

By:

Farrell, Ruth M.;
Mercer, MaryBeth;
Agatisa, Patricia K.;
Coleridge, Marissa B.

Publication type:

Article

Congenital funnel anus in children: associated anomalies, surgical management and outcome.

Published in:

2007

By:

Suomalainen, Anna;
Wester, Tomas;
Koivusalo, Antti;
Rintala, Risto J.;
Pakarinen, Mikko P.

Publication type:

journal article

Update on neuroimaging phenotypes of mid-hindbrain malformations.

Published in:

Neuroradiology, 2015, v. 57, n. 2, p. 113, doi. 10.1007/s00234-014-1431-2

By:

Jissendi-Tchofo, Patrice;
Severino, Mariasavina;
Nguema-Edzang, Béatrice;
Toure, Cissé;
Soto Ares, Gustavo;
Barkovich, Anthony

Publication type:

Article

Study Designs to Enhance Identification of Genetic Factors in Healthy Aging.

Published in:

Nutrition Reviews, 2007, v. 65, p. S228, doi. 10.1301/nr.2007.dec.S228-S233

By:

Manolio, Teri A.

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

Esophageal Squamous Cell Papillomatosis Arising in Focal Dermal Hypoplasia in a 3-Year-Old Girl.

Published in:

2018

By:

Nasr, Youssef;
Salgado, David;
El Demellawy, Dina;
Boland, Margaret;
de Nanassy, Joseph;
Demellawy, Dina El

Publication type:

journal 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

Gene screening facilitates diagnosis of complicated symptoms: A case report.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 6, p. 7915, doi. 10.3892/mmr.2017.7590

By:

HONG DUAN;
DI ZHANG;
JING CHENG;
YU LU;
HUIJUN YUAN

Publication type:

Article

Two novel ADAR1 gene mutations in two patients with dyschromatosis symmetrical hereditaria from birth.

Published in:

Molecular Medicine Reports, 2017, v. 15, n. 6, p. 3715, doi. 10.3892/mmr.2017.6427

By:

QIAN ZHOU;
LINGLIN ZHANG;
YUNFENG ZHANG;
HAO LUO;
LUDE ZHU;
PEIRU WANG;
GUOLONG ZHANG;
XIULI WANG

Publication type:

Article

Copy-number variation analysis in familial nonsyndromic congenital anomalies of the kidney and urinary tract: Evidence for the causative role of a transposable element-associated genomic rearrangement.

Published in:

Molecular Medicine Reports, 2017, v. 15, n. 6, p. 3631, doi. 10.3892/mmr.2017.6462

By:

SIOMOU, EKATERINI;
MITSIONI, ARTEMIS G.;
BOUBA, IOANNA;
GEORGIOU, IOANNIS;
GIAPROS, VASILEIOS;
NOUTSOPOULOS, DIMITRIOS

Publication type:

Article

Cystic Fibrosis Gene Testing a Challenge: Experts Say Widespread Use is Creating Unnecessary Risks.

Published in:

JAMA: Journal of the American Medical Association, 2003, v. 289, n. 22, p. 2923, doi. 10.1001/jama.289.22.2923

By:

Vastag, Brian

Publication type:

Article

Prescription for Prophecy: Confronting the Ambiguity of Susceptibility Testing.

Published in:

JAMA: Journal of the American Medical Association, 1998, v. 280, n. 17, p. 1535, doi. 10.1001/jama.280.17.1535-JMS1104-4-1

By:

Hyang Nina Kim

Publication type:

Article

Leptin and mucosal immunity.

Published in:

Mucosal Immunology (1933-0219), 2012, v. 5, n. 5, p. 472, doi. 10.1038/mi.2012.40

By:

Mackey-Lawrence, N M;
Petri, W A

Publication type:

Article

Genetics of large populations in epilepsy: Association studies -- Trials and tribulations.

Published in:

Neurology Asia, 2011, v. 16, n. S, p. 9

By:

Tan, Nigel C. K.

Publication type:

Article

Consanguinity and inherited epilepsies.

Published in:

Neurology Asia, 2011, v. 16, n. S, p. 11

By:

Jain, Satish

Publication type:

Article

Heredity in epilepsy -- An historical overview.

Published in:

Neurology Asia, 2011, v. 16, n. S, p. 5

By:

Shorvon, Simon

Publication type:

Article

ELEKTRONSKO-MIKROSKOPSKA, BIHEMIJSKA I GENETIČKA MODIFIKACIJA KLASIFIKACIJE BULOZNIH EPIDERMOLIZA.

Published in:

Medical Journal / Medicinski Žurnal, 2008, v. 14, n. 4, p. 166

By:

Mutevelić-Arslanagić, Naima;
Arslanagić, Selma;
Arslanagić, Rusmir

Publication type:

Article

Prevalence of Congenital Malformations in Grenada.

Published in:

West Indian Medical Journal, 2016, v. 65, n. 1, p. 123, doi. 10.7727/wimj.2013.331

By:

Nelson, B.;
Naraine, V.;
Patterson, C.;
Rodrigo, S.

Publication type:

Article

Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.

Published in:

BMC Endocrine Disorders, 2013, v. 13, n. 1, p. 56, doi. 10.1186/1472-6823-13-56

By:

Breitfeld, Jana;
Martens, Susanne;
Klammt, Jürgen;
Schlicke, Marina;
Pfäffle, Roland;
Krause, Kerstin;
Weidle, Kerstin;
Schleinitz, Dorit;
Stumvoll, Michael;
Führer, Dagmar;
Kovacs, Peter;
Tönjes, Anke

Publication type:

Article

Genetics: Autistic details.

Published in:: Nature, 2008, v. 454, n. 7202, p. 256, doi. 10.1038/454256d
Publication type:: Article

Cancer: the open question.

Published in:

Oncolog-Hematolog, 2015, n. 33, p. 3

By:

Paul, Doru

Publication type:

Article

Focal nodular hyperplasia-like lesion of the liver in a child previously treated for nephroblastoma.

Published in:

Pathology International, 2008, v. 58, n. 9, p. 606, doi. 10.1111/j.1440-1827.2008.02277.x

By:

Takeyama, Junji;
Ando, Ryo;
Sato, Tomoyuki;
Nio, Masaki;
Shimanuki, Yoshihisa;
Sato, Atsushi;
Imaizumi, Masue

Publication type:

Article

The Impact of Acquired Genetic Abnormalities on the Clinical Translation of Human Pluripotent Stem Cells.

Published in:

Cells (2073-4409), 2021, v. 10, n. 11, p. 3246, doi. 10.3390/cells10113246

By:

Keller, Alexander;
Spits, Claudia

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

Recent advance in our understanding of the molecular nature of chromosomal abnormalities.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 253, doi. 10.1038/jhg.2009.35

By:

Kurahashi, Hiroki;
Bolor, Hasbaira;
Kato, Takema;
Kogo, Hiroshi;
Tsutsumi, Makiko;
Inagaki, Hidehito;
Ohye, Tamae

Publication type:

Article

Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 7, p. 346, doi. 10.1007/s10038-003-0036-0

By:

Vilchis, Felipe;
Ramos, Luis;
Kofman-Alfaro, Susana;
Zenteno, Juan Carlos;
Méndez, Juan Pablo;
Chávez, Bertha

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

A Novel PTPRQ c.3697del Variant Causes Autosomal Dominant Progressive Hearing Loss in Both Humans and Mice.

Published in:

Clinical Genetics, 2025, v. 107, n. 2, p. 208, doi. 10.1111/cge.14634

By:

Zhou, Yaqi;
Yin, Na;
Ji, Lingchao;
Lu, Xiaochan;
Yang, Weiqiang;
Ye, Weiping;
Du, Wenhui;
Li, Ya;
Hu, Hongyi;
Mei, Xueshuang

Publication type:

Article

TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 170, doi. 10.1111/cge.13258

By:

Suleiman, J.;
Mundt, M.;
Sampath, S.;
El‐hattab, A. W.

Publication type:

Article

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

Published in:

2018

By:

Bruel, A.‐l.;
Thevenon, J.;
Huet, F.;
Jean‐marcais, N.;
Odent, S.;
Dubourg, C.;
Lehalle, D.;
Tran Mau‐them, F.;
Philippe, C.;
Moutton, S.;
Houcinat, N.;
Gay, S.;
Guibaud, L.;
Duffourd, Y.;
Rivière, J.‐b.;
Faivre, L.;
Thauvin‐robinet, C.

Publication type:

Case Study

Genetics of patella hypoplasia/agenesis.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 43, doi. 10.1111/cge.13209

By:

Vanlerberghe, C.;
Boutry, N.;
Petit, F.

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2018, v. 94, n. 1, p. 1, doi. 10.1111/cge.13114
Publication type:: Article

Epispadias and the associated embryopathies: genetic and developmental basis.

Published in:

Clinical Genetics, 2017, v. 91, n. 2, p. 247, doi. 10.1111/cge.12871

By:

Suzuki, K.;
Matsumaru, D.;
Matsushita, S.;
Murashima, A.;
Ludwig, M.;
Reutter, H.;
Yamada, G.

Publication type:

Article

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.

Published in:

Clinical Genetics, 2017, v. 91, n. 2, p. 339, doi. 10.1111/cge.12840

By:

Radvanszky, J.;
Hyblova, M.;
Durovcikova, D.;
Hikkelova, M.;
Fiedler, E.;
Kadasi, L.;
Turna, J.;
Minarik, G.;
Szemes, T.

Publication type:

Article

Cornelia de Lange syndrome.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 1, doi. 10.1111/cge.12499

By:

Boyle, M.I.;
Jespersgaard, C.;
Brøndum‐Nielsen, K.;
Bisgaard, A.‐M.;
Tümer, Z.

Publication type:

Article

Views of primary care providers regarding the return of genome sequencing incidental findings.

Published in:

Clinical Genetics, 2014, v. 86, n. 5, p. 461, doi. 10.1111/cge.12390

By:

Strong, K.A.;
Zusevics, K.L.;
Bick, D.;
Veith, R.

Publication type:

Article

Use of genetic technologies to compare medicines.

Published in:

Clinical Genetics, 2014, v. 86, n. 5, p. 441, doi. 10.1111/cge.12462

By:

Kolitz, S.E.;
Towfic, F.;
Grossman, I.;
Hayden, M.R.;
Zeskind, B.

Publication type:

Article

Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.

Published in:

Clinical Genetics, 2013, v. 84, n. 5, p. 429, doi. 10.1111/cge.12061

By:

Mostowska, A;
Biedziak, B;
Zadurska, M;
Dunin‐Wilczynska, I;
Lianeri, M;
Jagodzinski, PP

Publication type:

Article

PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.

Published in:

Clinical Genetics, 2011, v. 80, n. 6, p. 581, doi. 10.1111/j.1399-0004.2010.01588.x

By:

Negrisolo, S;
Benetti, E;
Centi, S;
Della Vella, M;
Ghirardo, G;
Zanon, GF;
Murer, L;
Artifoni, L

Publication type:

Article

Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 466, doi. 10.1111/j.1399-0004.2010.01554.x

By:

Yano, S;
Baskin, B;
Bagheri, A;
Watanabe, Y;
Moseley, K;
Nishimura, A;
Matsumoto, N;
Ray, PN

Publication type:

Article

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233

By:

Delahaye, Andrée;
Bitoun, Pierre;
Drunat, Séverine;
Gérard-Blanluet, Marion;
Chassaing, Nicolas;
Toutain, Annick;
Verloes, Alain;
Gatelais, Frédérique;
Legendre, Marie;
Faivre, Laurence;
Passemard, Sandrine;
Aboura, Azzedine;
Kaltenbach, Sophie;
Quentin, Samuel;
Dupont, Céline;
Tabet, Anne-Claude;
Amselem, Serge;
Elion, Jacques;
Gressens, Pierre;
Pipiras, Eva

Publication type:

Article

Type II familial synpolydactyly: report on two families with an emphasis on variations of expression.

Published in:

2011

By:

Al-Qattan, Mohammad M.

Publication type:

Case Study

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