PMC Links for Books (Select 4396450) - PMC

Select item 104095371.

Late Presentation of Tricho-Rhino-Phalangeal Syndrome (TRPS1 Affected) Associated Hip Pathology

Faye Grace, Elizabeth Ashby

J Med Cases. 2023 Jul; 14(7): 244–250. Published online 2023 Jul 31. doi: 10.14740/jmc4125

PMCID:: PMC10409537

Select item 101627672.

Generalized Hypertrichosis After 5% Minoxidil Solution in Trichorhinophalangeal Syndrome: A Case Report and Review of the Literatures

Bong Seok Shin, Jun Ho Kwak, Hoon Choi, Chan Ho Na, Min Sung Kim

Indian J Dermatol. 2023 Jan-Feb; 68(1): 112–114. doi: 10.4103/ijd.ijd_41_23

PMCID:: PMC10162767

Article

Select item 100819543.

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew Warman, Andrea Superti-Furga

Am J Med Genet A. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1164–1209. Published online 2023 Feb 13. doi: 10.1002/ajmg.a.63132

PMCID:: PMC10081954

Abstract Article PDF–894K

Select item 98857884.

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients

Nilay Güneş, Esra Usluer, Aylin Yüksel Ülker, Dilek Uludağ Alkaya, Evrim Çifçi Sunamak, Figen Celep Eyüpoğlu, Zehra Oya Uyguner, Beyhan Tüysüz

Turk Arch Pediatr. 2023 Jan; 58(1): 98–104. Published online 2023 Jan 1. doi: 10.5152/TurkArchPediatr.2022.22223

PMCID:: PMC9885788

Abstract Article PDF–906K

Select item 96000255.

Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report

Dan Huang, Jia Zhao, Fang-Ling Xia, Chao-Chun Zou

Children (Basel) 2022 Oct; 9(10): 1447. Published online 2022 Sep 22. doi: 10.3390/children9101447

PMCID:: PMC9600025

Abstract Article PDF–1.3M

Select item 93144846.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 75495557.

TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations

Chen Wang, Yufei Xu, Yanrong Qing, Ruen Yao, Niu Li, Xiumin Wang, Tingting Yu, Jian Wang

Mol Genet Genomic Med. 2020 Oct; 8(10): e1417. Published online 2020 Aug 10. doi: 10.1002/mgg3.1417

PMCID:: PMC7549555

Abstract Article PDF–2.3M

Select item 73243558.

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4

Ming Lei, Desheng Liang, Yifeng Yang, Satomi Mitsuhashi, Kazutaka Katoh, Noriko Miyake, Martin C. Frith, Lingqian Wu, Naomichi Matsumoto

J Hum Genet. 2020; 65(8): 667–674. Published online 2020 Apr 15. doi: 10.1038/s10038-020-0754-6

PMCID:: PMC7324355

Abstract Article PDF–1.2M

Select item 59299679.

Treatment of Hair Loss in the Trichorhinophalangeal Syndrome

Mi Soo Choi, Myeong Jin Park, Minkee Park, Chan Hee Nam, Seung Phil Hong, Myung Hwa Kim, Byung Cheol Park

Ann Dermatol. 2018 Jun; 30(3): 382–383. Published online 2018 Apr 23. doi: 10.5021/ad.2018.30.3.382

PMCID:: PMC5929967

Article PDF–4.8M

Select item 454475310.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 408165711.

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

Milena Crippa, Ilaria Bestetti, Mario Perotti, Chiara Castronovo, Silvia Tabano, Chiara Picinelli, Guido Grassi, Lidia Larizza, Angela Ida Pincelli, Palma Finelli

BMC Med Genet. 2014; 15: 52. Published online 2014 May 2. doi: 10.1186/1471-2350-15-52

PMCID:: PMC4081657

Abstract Article PDF–1.2M

Select item 386540012.

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling

Carole Corsini, Martin Gencik, Marjolaine Willems, Eva Decker, Elodie Sanchez, Jacques Puechberty, Anouck Schneider, Manon Girard, Patrick Edery, Patricia Bretonnes, Jérôme Cottalorda, Geneviève Lefort, Claire Jeandel, Pierre Sarda, David Genevieve

Eur J Hum Genet. 2014 Jan; 22(1): 136–139. Published online 2013 Apr 10. doi: 10.1038/ejhg.2013.56

PMCID:: PMC3865400

Abstract Article PDF–1.2M

Select item 123493613.

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

H.-J. Lüdecke, J. Schaper, P. Meinecke, P. Momeni, S. Groß, D. von Holtum, H. Hirche, M. J. Abramowicz, B. Albrecht, C. Apacik, H.-J. Christen, U. Claussen, K. Devriendt, E. Fastnacht, A. Forderer, U. Friedrich, T. H. J. Goodship, M. Greiwe, H. Hamm, R. C. M. Hennekam, G. K. Hinkel, M. Hoeltzenbein, H. Kayserili, F. Majewski, M. Mathieu, R. McLeod, A. T. Midro, U. Moog, T. Nagai, N. Niikawa, K. H. Ørstavik, E. Plöchl, C. Seitz, J. Schmidtke, L. Tranebjærg, M. Tsukahara, B. Wittwer, B. Zabel, G. Gillessen-Kaesbach, B. Horsthemke

Am J Hum Genet. 2001 Jan; 68(1): 81–91. Published online 2000 Dec 7. doi: 10.1086/316926

PMCID:: PMC1234936

Abstract Article PDF–431K

Select item 101683014.

Hereditary multiple exostoses.

R C Hennekam

J Med Genet. 1991 Apr; 28(4): 262–266. doi: 10.1136/jmg.28.4.262

PMCID:: PMC1016830

Summary Page Browse PDF–1.0M

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