Works matching Dysmorphology

Results: 870

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 5, p. 2184, doi. 10.1007/s10803-019-03899-0

By:

Shapira, Stuart K.;
Tian, Lin H.;
Aylsworth, Arthur S.;
Elias, Ellen R.;
Hoover-Fong, Julie E.;
Meeks, Naomi J. L.;
Souders, Margaret C.;
Tsai, Anne C.-H.;
Zackai, Elaine H.;
Alexander, Aimee A.;
Yeargin-Allsopp, Marshalyn;
Schieve, Laura A.

Publication type:

Article

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 557, doi. 10.1111/cge.12716

By:

Basel‐Vanagaite, L.;
Wolf, L.;
Orin, M.;
Larizza, L.;
Gervasini, C.;
Krantz, I.D.;
Deardoff, M.A.

Publication type:

Article

Dysmorphology services: a snapshot of current practices and a vision for the future.

Published in:

Clinical Genetics, 2016, v. 89, n. 1, p. 27, doi. 10.1111/cge.12571

By:

Douzgou, S.;
Chervinsky, E.;
Gyftodimou, Y.;
Kitsiou‐Tzeli, S.;
Shalev, S.;
Kanavakis, E.;
Donnai, D.;
Clayton‐Smith, J.

Publication type:

Article

RDDR: a dysmorphology diagnostic network for newborns in central Italy.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2012, v. 25, p. 113, doi. 10.3109/14767058.2012.714989

By:

Dentici, Maria Lisa;
Tarani, Luigi;
Digilio, Maria Cristina;
Mingarelli, Rita;
Baban, Anwar;
Zampino, Giuseppe;
Romagnoli, Costantino;
De Curtis, Mario;
Dallapiccola, Bruno

Publication type:

Article

Anthropometerical Association of the Craniofacial Dysmorphology with Schizophrenia.

Published in:

Journal of Clinical & Diagnostic Research, 2012, v. 6, n. 10, p. 1620, doi. 10.7860/JCDR/2012/4685.2623

By:

MISHRA, VIVEK;
SHARMA, SHELJA;
KULSRESHTHA, VASUNDHRA;
KUMAR, VIRENDRA;
GURUNANI, K. C.

Publication type:

Article

Diagnosis in dysmorphology: clues from the skin.

Published in:

British Journal of Dermatology, 2004, v. 151, n. 5, p. 953, doi. 10.1111/j.1365-2133.2004.06266.x

By:

Smithson, S.F.;
Winter, R.M.

Publication type:

Article

Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70040

By:

Helm, Benjamin M.;
Helvaty, Lindsey R.;
Conboy, Erin;
Geddes, Gabrielle C.;
Graham, Brett H.;
Lah, Melissa;
Wetherill, Leah;
Landis, Benjamin J.;
Ware, Stephanie M.

Publication type:

Article

A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series.

Published in:

Fetal & Pediatric Pathology, 2018, v. 37, n. 1, p. 49, doi. 10.1080/15513815.2017.1397070

By:

Aggarwal, Shagun;
Tandon, Ashwani;
Das Bhowmik, Aneek;
Safarulla, Jamal Mohamed Nurul Jain;
Dalal, Ashwin

Publication type:

Article

The neurodevelopmental basis of schizophrenia: clinical clues from craniofacial dysmorphology in northwest Ethiopia, 2020.

Published in:

2021

By:

Tsehay, Binalfew;
Seyoum, Girma

Publication type:

journal article

Next generation phenotyping in Emanuel and Pallister‐Killian syndrome using computer‐aided facial dysmorphology analysis of 2D photos.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 378, doi. 10.1111/cge.13087

By:

Liehr, T.;
Acquarola, N.;
Pyle, K.;
St‐Pierre, S.;
Rinholm, M.;
Bar, O.;
Wilhelm, K.;
Schreyer, I.

Publication type:

Article

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay.

Published in:

2022

By:

Verdi, Giavanna;
Li, Dong;
Elsea, Sarah H.;
Nelson, Beverly;
Bhoj, Elizabeth J.;
Hakonarson, Hakon;
Yearwood, Katherine R.;
Upadhya, Sharmila;
Gluschitz, Sarah;
Smith, Janice L.;
Sobering, Andrew K.

Publication type:

Case Study

Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader‐Willi syndrome: A multicenter study.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 29, doi. 10.1111/cge.13947

By:

Mahmoud, Ranim;
Leonenko, Anna;
Butler, Merlin G.;
Flodman, Pamela;
Gold, June‐Anne;
Miller, Jennifer L.;
Roof, Elizabeth;
Dykens, Elisabeth;
Driscoll, Daniel J.;
Kimonis, Virginia

Publication type:

Article

Dysmorphology in the Era of Genomic Diagnosis.

Published in:

Journal of Personalized Medicine, 2020, v. 10, n. 1, p. 18, doi. 10.3390/jpm10010018

By:

Hurst, Anna C. E.;
Robin, Nathaniel H.

Publication type:

Article

Quantifying dysmorphologies of the neurocranium using artificial neural networks.

Published in:

Journal of Anatomy, 2024, v. 245, n. 6, p. 903, doi. 10.1111/joa.14061

By:

Abdel‐Alim, Tareq;
Tapia Chaca, Franz;
Mathijssen, Irene M. J.;
Dirven, Clemens M. F.;
Niessen, Wiro J.;
Wolvius, Eppo B.;
van Veelen, Marie‐Lise C.;
Roshchupkin, Gennady V.

Publication type:

Article

London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001: R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, £1595.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 113, doi. 10.1007/s00439-002-0759-6

By:

Fryns, J.-P.;
de Ravel, T. J. L.

Publication type:

Article

Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.

Published in:

Journal of Anatomy, 2023, v. 242, n. 3, p. 387, doi. 10.1111/joa.13790

By:

Hoshino, Yukiko;
Takechi, Masaki;
Moazen, Mehran;
Steacy, Miranda;
Koyabu, Daisuke;
Furutera, Toshiko;
Ninomiya, Youichirou;
Nuri, Takashi;
Pauws, Erwin;
Iseki, Sachiko

Publication type:

Article

Phenotypic variability and craniofacial dysmorphology: increased shape variance in a mouse model for cleft lip.

Published in:

Journal of Anatomy, 2008, v. 212, n. 2, p. 135, doi. 10.1111/j.1469-7580.2007.00845.x

By:

Parsons, Trish E.;
Kristensen, Erika;
Hornung, Lynnette;
Diewert, Virginia M.;
Boyd, Steven K.;
German, Rebecca Z.;
Hallgrímsson, Benedikt

Publication type:

Article

Sonic hedgehog: restricted expression and limb dysmorphologies.

Published in:

Journal of Anatomy, 2003, v. 202, n. 1, p. 13, doi. 10.1046/j.1469-7580.2003.00148.x

By:

Hill, Robert E.;
Heaney, Simon J.H.;
Lettice, Laura A.

Publication type:

Article

Dysmorphology and the spectacle of the clinic.

Published in:

2005

By:

Featherstone K;
Latimer J;
Atkinson P;
Pilz DT;
Clarke A

Publication type:

Journal Article

A study on orthomorphic correction of mandibular dysmorphology.

Published in:

Annals of Maxillofacial Surgery, 2012, v. 2, n. 2, p. 120, doi. 10.4103/2231-0746.92774

By:

Degala, Saikrishna;
Shetty, Sujeeth;
Morgan, Gen

Publication type:

Article

A study on orthomorphic correction of mandibular dysmorphology.

Published in:

Annals of Maxillofacial Surgery, 2011, v. 1, n. 2, p. 120, doi. 10.4103/2231-0746.92774

By:

Degala, Saikrishna;
Shetty, Sujeeth;
Morgan, Gen

Publication type:

Article

The Relationship between Brachycephalic Head Features in Modern Persian Cats and Dysmorphologies of the Skull and Internal Hydrocephalus.

Published in:

Journal of Veterinary Internal Medicine, 2017, v. 31, n. 5, p. 1487, doi. 10.1111/jvim.14805

By:

Schmidt, M.J.;
Kampschulte, M.;
Enderlein, S.;
Gorgas, D.;
Lang, J.;
Ludewig, E.;
Fischer, A.;
Meyer ‐ Lindenberg, A.;
Schaubmar, A.R.;
Failing, K.;
Ondreka, N.

Publication type:

Article

Craniofacial dysmorphology in Swedish schizophrenia patients.

Published in:

Acta Psychiatrica Scandinavica, 2005, v. 111, n. 3, p. 202, doi. 10.1111/j.1600-0447.2004.00473.x

By:

Kelly, B. D.;
Lane, A.;
Agartz, I.;
Henriksson, K. M.;
McNeil, T. F.

Publication type:

Article

Regional brain volume reductions relate to facial dysmorphology and neurocognitive function in fetal alcohol spectrum disorders.

Published in:

Human Brain Mapping, 2012, v. 33, n. 4, p. 920, doi. 10.1002/hbm.21260

By:

Roussotte, Florence F.;
Sulik, Kathleen K.;
Mattson, Sarah N.;
Riley, Edward P.;
Jones, Kenneth L.;
Adnams, Colleen M.;
May, Philip A.;
O'Connor, Mary J.;
Narr, Katherine L.;
Sowell, Elizabeth R.

Publication type:

Article

Oocyte zona pellucida dysmorphology is associated with diminished in-vitro fertilization success.

Published in:

Journal of Ovarian Research, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13048-014-0111-5

By:

Sauerbrun-Cutler, May-Tal;
Vega, Mario;
Breborowicz, Andrzej;
Gonzales, Eric;
Stein, Daniel;
Lederman, Mathew;
Keltz, Martin

Publication type:

Article

Aberrant protamination in sperm correlates to anomalous nuclear and cytoplasmic architectures in infertile males with sperm dysmorphology.

Published in:

Asian Journal of Andrology, 2024, v. 26, n. 2, p. 183, doi. 10.4103/aja202360

By:

Jiang, Huan;
Huang, Chu-Jie

Publication type:

Article

Aberrant cell segregation in the craniofacial primordium and the emergence of facial dysmorphology in craniofrontonasal syndrome.

Published in:

PLoS Genetics, 2020, v. 16, n. 2, p. 1, doi. 10.1371/journal.pgen.1008300

By:

Niethamer, Terren K.;
Teng, Teng;
Franco, Melanie;
Du, Yu Xin;
Percival, Christopher J.;
Bush, Jeffrey O.

Publication type:

Article

Quantitative analysis of craniofacial dysmorphology in infants with anterior synostotic plagiocephaly.

Published in:

Child's Nervous System, 2016, v. 32, n. 12, p. 2339, doi. 10.1007/s00381-016-3218-8

By:

Calandrelli, Rosalinda;
D'Apolito, Gabriella;
Massimi, Luca;
Gaudino, Simona;
Visconti, Emiliano;
Pelo, Sandro;
Di Rocco, Concezio;
Colosimo, Cesare

Publication type:

Article

Ethanol-Induced Face-Brain Dysmorphology Patterns Are Correlative and Exposure-Stage Dependent.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043067

By:

Lipinski, Robert J.;
Hammond, Peter;
O'Leary-Moore, Shonagh K.;
Ament, Jacob J.;
Pecevich, Stephen J.;
Yi Jiang;
Budin, Francois;
Parnell, Scott E.;
Suttie, Michael;
Godin, Elizabeth A.;
Everson, Joshua L.;
Dehart, Deborah B.;
Oguz, Ipek;
Holloway, Hunter T.;
Styner, Martin A.;
Johnson, G. Allan;
Sulik, Kathleen K.;
Schubert, Michael

Publication type:

Article

Sh3pxd2b Mice Are a Model for Craniofacial Dysmorphology and Otitis Media.

Published in:

PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022622

By:

Bin Yang;
Cong Tian;
Zhi-guang Zhang;
Feng-chan Han;
Rami Azem;
Heping Yu;
Ye Zheng;
Ge Jin;
Arnold, James E.;
Zheng, Qing Y.

Publication type:

Article

Computed tomography quantitative analysis of cranial vault dysmorphology and severity of facial complex changes in posterior synostotic plagiocephaly patients.

Published in:

Child's Nervous System, 2024, v. 40, n. 3, p. 779, doi. 10.1007/s00381-023-06227-1

By:

Calandrelli, Rosalinda;
Pilato, Fabio;
Massimi, Luca;
D'Apolito, Gabriella;
Tuzza, Laura;
Gaudino, Simona

Publication type:

Article

Facial skeleton dysmorphology in syndromic craniosynostosis: differences between FGFR2 and no-FGFR2-related syndromes and relationship with skull base and facial sutural patterns.

Published in:

Child's Nervous System, 2023, v. 39, n. 11, p. 3235, doi. 10.1007/s00381-023-05962-9

By:

Calandrelli, Rosalinda;
Pilato, Fabio;
Massimi, Luca;
D'Apolito, Gabriella;
Colosimo, Cesare

Publication type:

Article

A Longitudinal Analysis of Pre- and Post-Operative Dysmorphology in Metopic Craniosynostosis.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 7, p. 1144, doi. 10.1177/10556656241237605

By:

Beiriger, Justin W.;
Tao, Wenzheng;
Irgebay, Zhazira;
Smetona, John;
Dvoracek, Lucas;
Kass, Nicolás M.;
Dixon, Angel;
Zhang, Casey;
Mehta, Meeti;
Whitaker, Ross;
Goldstein, Jesse A.

Publication type:

Article

3D Assessment of Lip Scarring and Residual Dysmorphology Following Surgical Repair of Cleft Lip and Palate: A Preliminary Study.

Published in:

Cleft Palate Craniofacial Journal, 2011, v. 48, n. 4, p. 379, doi. 10.1597/10-057

By:

Ayoub, Ashraf;
Bell, Aileen;
Simmons, David;
Bowman, Adrian;
Brown, Denise;
Tsz-Wai Lo;
Yijun Xiao

Publication type:

Article

New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis.

Published in:

Journal of Anatomy, 2010, v. 217, n. 2, p. 85, doi. 10.1111/j.1469-7580.2010.01258.x

By:

Heuzé, Yann;
Boyadjiev, Simeon A.;
Marsh, Jeffrey L.;
Kane, Alex A.;
Cherkez, Elijah;
Boggan, James E.;
Richtsmeier, Joan T.

Publication type:

Article

Computational mouse atlases and their application to automatic assessment of craniofacial dysmorphology caused by the Crouzon mutation Fgfr2<sup>C342Y</sup>.

Published in:

Journal of Anatomy, 2007, v. 211, n. 1, p. 37, doi. 10.1111/j.1469-7580.2007.00751.x

By:

Ólafsdóttir, Hildur;
Darvann, Tron A.;
Hermann, Nuno V.;
Oubel, Estanislao;
Ersbøll, Bjarne K.;
Frangi, Alejandro F.;
Larsen, Per;
Perlyn, Chad A.;
Morriss-Kay, Gillian M.;
Kreiborg, Sven

Publication type:

Article

Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.

Published in:

Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09547-8

By:

Roalf, David R.;
McDonald-McGinn, Donna M.;
Jee, Joelle;
Krall, Mckenna;
Crowley, T. Blaine;
Moberg, Paul J.;
Kohler, Christian;
Calkins, Monica E.;
Crow, Andrew J.D.;
Fleischer, Nicole;
Gallagher, R. Sean;
Gonzenbach, Virgilio;
Clark, Kelly;
Gur, Ruben C.;
McClellan, Emily;
McGinn, Daniel E.;
Mordy, Arianna;
Ruparel, Kosha;
Turetsky, Bruce I.;
Shinohara, Russell T.

Publication type:

Article

Correction to "SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology".

Published in:: Clinical Genetics, 2024, v. 106, n. 5, p. 664, doi. 10.1111/cge.14597
Publication type:: Article

Dysmorphology at a distance: results of a web-based diagnostic service.

Published in:: European Journal of Human Genetics, 2014, v. 22, n. 3, p. 327, doi. 10.1038/ejhg.2013.137
Publication type:: Article

Consanguinity and Dysmorphology in Arabs.

Published in:

Human Heredity, 2014, v. 77, n. 1-4, p. 93, doi. 10.1159/000360421

By:

Al-Gazali, Lihadh;
Hamamy, Hanan

Publication type:

Article

Idiomatic language function and corpus callosum dysmorphology in children with spina bifida.

Published in:: 2003
Publication type:: Abstract

A randomized controlled trial of a lifestyle intervention with longitudinal follow‐up on ovarian dysmorphology in women with polycystic ovary syndrome.

Published in:

Clinical Endocrinology, 2020, v. 92, n. 6, p. 525, doi. 10.1111/cen.14179

By:

Kazemi, Maryam;
Pierson, Roger A.;
McBreairty, Laura E.;
Chilibeck, Philip D.;
Zello, Gordon A.;
Chizen, Donna R.

Publication type:

Article

Dysmorphology Diagnosis Program.

Published in:

Clinical Pediatrics, 1993, v. 32, n. 6, p. 384

By:

McCombs, Jerome L.

Publication type:

Article

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006169

By:

Mark, Paul R.;
Murray, Stephen A.;
Tao Yang;
Eby, Alexandra;
Lai, Angela;
Di Lu;
Zieba, Jacob;
Rajasekaran, Surender;
VanSickle, Elizabeth A.;
Rossetti, Linda Z.;
Guidugli, Lucia;
Watkins, Kelly;
Wright, Meredith S.;
Bupp, Caleb P.;
Prokop, Jeremy W.

Publication type:

Article

Fetal Alcohol Syndrome: An Examination of Craniofacial Dysmorphology in Macaca nemestrina.

Published in:

Journal of Medical Primatology, 1985, v. 14, n. 1, p. 35, doi. 10.1111/j.1600-0684.1985.tb00169.x

By:

Inouye, Randall N.;
Kokich, Vincent G.;
Clarren, Sterling K.;
Bowden, Douglas M.

Publication type:

Article

Developmental Biology: Frontiers for Clinical Genetics Section Editors: Roderick R McInnes, e-mail: Jacques Michaud, e-mail: Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology.

Published in:

2004

By:

Cox, T. C.

Publication type:

Other

Hair as a diagnostic tool in dysmorphology.

Published in:

Clinical Genetics, 2002, v. 62, n. 4, p. 270, doi. 10.1034/j.1399-0004.2002.620403.x

By:

Silengo, M;
Valenzise, M;
Sorasio, L;
Ferrero, GB

Publication type:

Article

The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 375, doi. 10.1034/j.1399-0004.2001.590601.x

By:

Nowaczyk, MJM;
Waye, JS

Publication type:

Article

Transcription factors in dysmorphology.

Published in:

Clinical Genetics, 1999, v. 55, n. 3, p. 137, doi. 10.1034/j.1399-0004.1999.550301.x

By:

Lacombe, Didier

Publication type:

Article

Morphometric analysis of the size-adjusted linear dimensions of the skull landmarks revealed craniofacial dysmorphology in Mid1-cKO mice.

Published in:

BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09162-2

By:

Liang, Yaohui;
Song, Chao;
Li, Jieli;
Li, Ting;
Zhang, Chunlei;
Zou, Yi

Publication type:

Article