PMC Articles for MedGen (Select 78599) - PMC

Select item 100746701.

Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report

Guillermo Edinson Guzmán, Ithzayana Madariaga, Carlos Julio Vargas, Laura Ballen Galeano, Maria Angélica Guerra, Jose Antonio Nastasi

J Med Case Rep. 2023; 17: 152. Published online 2023 Apr 5. doi: 10.1186/s13256-023-03873-6

PMCID:: PMC10074670

Article PDF–1.1M

Select item 99362582.

Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations

Hager Jaouadi, Alexis Theron, Giulia Norscini, Jean-François Avierinos, Stéphane Zaffran

Mol Med Rep. 2023 Mar; 27(3): 59. Published online 2023 Jan 27. doi: 10.3892/mmr.2023.12946

PMCID:: PMC9936258

Article PDF–2.6M

Select item 91608983.

Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome

Christina G. Tise, Dena R. Matalon, Melanie A. Manning, Heather M. Byers, Monica Grover

J Investig Med High Impact Case Rep. 2022 Jan-Dec; 10: 23247096221101844. Published online 2022 May 31. doi: 10.1177/23247096221101844

PMCID:: PMC9160898

Article PDF–593K

Select item 82361994.

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene

Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer

Orphanet J Rare Dis. 2021; 16: 286. Published online 2021 Jun 26. doi: 10.1186/s13023-021-01914-1

PMCID:: PMC8236199

Article PDF–1.9M

Select item 79888375.

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

K. Taylor Wild, Tia Gordon, Elizabeth J. Bhoj, Haowei Du, Shalini N. Jhangiani, Jennifer E. Posey, James R. Lupski, Daryl A. Scott, Elaine H. Zackai

Am J Med Genet A. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Am J Med Genet A. 2020 Dec; 182(12): 2919–2925. Published online 2020 Sep 21. doi: 10.1002/ajmg.a.61878

PMCID:: PMC7988837

Article PDF–647K

Select item 65948986.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

Elizabeth J. Bhoj, Damien Haye, Annick Toutain, Dominique Bonneau, Irene Kibæk Nielsen, Ida Bay Lund, Pauline Bogaard, Stine Leenskjold, Kadri Karaer, Katherine T Wild, Katheryn L Grand, Mirena C. Astiazaran, Luis A. Gonzalez-Nieto, Ana Carvalho, Daphné Lehalle, Shivarajan M Amudhavalli, Elena Repnikova, Carol Saunders, Isabelle Thiffault, Irfan Saadi, Dong Li, Hakon Hakonarson, Yoann Vial, Elaine Zackai, Patrick Callier, Séverine Drunat, Alain Verloes

Eur J Med Genet. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Eur J Med Genet. 2019 Dec; 62(12): 103588. Published online 2018 Nov 22. doi: 10.1016/j.ejmg.2018.11.022

PMCID:: PMC6594898

Article PDF–506K

Select item 54116887.

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Patrick R. Blackburn, Sarah S. Barnett, Michael T. Zimmermann, Margot A. Cousin, Charu Kaiwar, Filippo Pinto e Vairo, Zhiyv Niu, Matthew J. Ferber, Raul A. Urrutia, Duygu Selcen, Eric W. Klee, Pavel N. Pichurin

Cold Spring Harb Mol Case Stud. 2017 May; 3(3): a001743. doi: 10.1101/mcs.a001743

PMCID:: PMC5411688

Article PDF–3.6M

Select item 52172368.

Moebius sequence –a multidisciplinary clinical approach

Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen, John Rosendahl Østergaard

Orphanet J Rare Dis. 2017; 12: 4. Published online 2017 Jan 6. doi: 10.1186/s13023-016-0559-z

PMCID:: PMC5217236

Article PDF–3.6M

Select item 45541829.

A Novel Mutation of the HNF1B Gene Associated With Hypoplastic Glomerulocystic Kidney Disease and Neonatal Renal Failure: A Case Report and Mutation Update

Maria Inês Alvelos, Magda Rodrigues, Luísa Lobo, Ana Medeira, Ana Berta Sousa, Carla Simão, Manuel Carlos Lemos

Medicine (Baltimore) 2015 Feb; 94(7): e469. Published online 2015 Feb 20. doi: 10.1097/MD.0000000000000469

PMCID:: PMC4554182

Article PDF–326K

Select item 327112110.

A Case of SRY-Positive 38,XY True Hermaphroditism (XY Sex Reversal) in a Cat

D. H. Schlafer, B. Valentine, G. Fahnestock, L. Froenicke, R. A. Grahn, L. A. Lyons, V. N. Meyers-Wallen

Vet Pathol. Author manuscript; available in PMC 2012 Feb 2.

Published in final edited form as: Vet Pathol. 2011 Jul; 48(4): 817–822. Published online 2010 Sep 22. doi: 10.1177/0300985810382093

PMCID:: PMC3271121

Article PDF–2.5M

Select item 296311011.

The Phenotypic Spectrum of Contiguous Deletion of CYP21A2 and Tenascin XB: Quadricuspid Aortic Valve and Other Midline Defects

Wuyan Chen, Mimi S. Kim, Sujata Shanbhag, Andrew Arai, Carol VanRyzin, Nazli B. McDonnell, Deborah P. Merke

Am J Med Genet A. Author manuscript; available in PMC 2010 Oct 25.

Published in final edited form as: Am J Med Genet A. 2009 Dec; 149A(12): 2803–2808. doi: 10.1002/ajmg.a.33092

PMCID:: PMC2963110

Article PDF–299K

Select item 173524012.

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

A Slavotinek, C Tifft

J Med Genet. 2002 Sep; 39(9): 623–633. doi: 10.1136/jmg.39.9.623

PMCID:: PMC1735240

Summary PDF–167K

Select item 173437713.

Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?

H Janssen, C Schaap, N Vandevijver, P Moerman, C E M de Die-Smulders, J Fryns

J Med Genet. 1999 Jun; 36(6): 481–484.

PMCID:: PMC1734377

Summary PDF–95K

Select item 1093024714.

102例不同类型阴道斜隔综合征的临床特征

蒋建发, 易水晶

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Apr 28; 48(4): 550–556. Chinese. doi: 10.11817/j.issn.1672-7347.2023.220336

PMCID:: PMC10930247

Article PDF–693K

Select item 1041987715.

Manejo de la hemorragia posparto en una paciente con útero bicorne con la sutura B-Lynch. Reporte de caso y revisión de la literatura

Amanecer Rueda-Monsalbe, MD, Jhon Edison Sanabria-Castelblanco, MD, Miguel Ángel Montañez-Aldana, MD

Rev Colomb Obstet Ginecol. 2023 Apr-Jun; 74(2): 153–162. Spanish. Published online 2023 Jun 30. doi: 10.18597/rcog.3989

PMCID:: PMC10419877

Article PDF–691K

Select item 1002456116.

Bicornuate uterus and pregnancy: ambiguity diagnosis (a case report)

Hamidou Soumana Diaouga, Houegbelo Lazare Laurent, Maimouna Chaibou Yacouba, Fougou Laouane Ari Mamane, Madeleine Garba Rahamatou, Nafiou Idi, Madi Nayama

Pan Afr Med J. 2022; 43: 203. Published online 2022 Dec 23. doi: 10.11604/pamj.2022.43.203.32905

PMCID:: PMC10024561

Article PDF–845K

Select item 989239917.

A case of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus in a prepubertal girl

Misako Nakamura, Shoichiro Kanda, Yuko Kajiho, Munetoshi Hinata, Kotaro Tomonaga, Jun Fujishiro, Yutaka Harita

CEN Case Rep. 2023 Feb; 12(1): 122–129. Published online 2022 Sep 2. doi: 10.1007/s13730-022-00730-1

PMCID:: PMC9892399

Article PDF–1.2M

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