PMC Articles for MedGen (Select 1823984) - PMC

Select item 98341771.

The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review

Wenyong Wu, Ruimin Chen

Mol Genet Genomic Med. 2023 Jan; 11(1): e2066. Published online 2022 Sep 24. doi: 10.1002/mgg3.2066

PMCID:: PMC9834177

Abstract Article PDF–1.8M

Select item 79771882.

Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier

Orphanet J Rare Dis. 2021; 16: 136. Published online 2021 Mar 18. doi: 10.1186/s13023-021-01744-1

PMCID:: PMC7977188

Abstract Article PDF–1.2M

Select item 76475963.

A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report

Maoying Jiang, Shanlin Wang, Fei Li, Juan Geng, Yiting Ji, Ke Li, Xiaodong Jiang

Medicine (Baltimore) 2020 Nov 6; 99(45): e23033. Published online 2020 Nov 6. doi: 10.1097/MD.0000000000023033

PMCID:: PMC7647596

Abstract Article PDF–947K

Select item 62882784.

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

Arjan P.M. de Brouwer, Rami Abou Jamra, Nadine Körtel, Clara Soyris, Daniel L. Polla, Modi Safra, Avia Zisso, Christopher A. Powell, Pedro Rebelo-Guiomar, Nadja Dinges, Violeta Morin, Michael Stock, Mureed Hussain, Mohsin Shahzad, Saima Riazuddin, Zubair M. Ahmed, Rolph Pfundt, Franziska Schwarz, Lonneke de Boer, André Reis, Detilina Grozeva, F. Lucy Raymond, Sheikh Riazuddin, David A. Koolen, Michal Minczuk, Jean-Yves Roignant, Hans van Bokhoven, Schraga Schwartz

Am J Hum Genet. 2018 Dec 6; 103(6): 1045–1052. Published online 2018 Dec 6. doi: 10.1016/j.ajhg.2018.10.026

PMCID:: PMC6288278

Abstract Article PDF–1.2M

Select item 46134695.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julian A Martinez-Agosto, Natalia Gomez-Ospina, Natalie Gallant, Jonathan A Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka-Kowalnik, Michelle Fox, Joshua L Deignan, Eric Vilain, Emily Hendricks, Margaret Horton Harr, Sarah E Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H Zackai, Ian Krantz, A Micheil Innes, Stanley F Nelson, Wayne W Grody, Fabiola Quintero-Rivera

Eur J Hum Genet. 2015 Oct; 23(11): 1473–1481. Published online 2015 May 6. doi: 10.1038/ejhg.2015.71

PMCID:: PMC4613469

Abstract Article PDF–2.3M

Select item 40232236.

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

Sonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, Bregje W van Bon, Kym M Boycott, Jeroen Schoots, Lies H Hoefsloot, Nine VAM Knoers, Ernie MHF Bongers, Han G Brunner

Eur J Hum Genet. 2014 Jun; 22(6): 844–846. Published online 2013 Nov 6. doi: 10.1038/ejhg.2013.249

PMCID:: PMC4023223

Abstract Article PDF–303K

Select item 29871957.

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Luis M Franco, Thomy de Ravel, Brett H Graham, Stephanie M Frenkel, Jozef Van Driessche, Pawel Stankiewicz, James R Lupski, Joris R Vermeesch, Sau Wai Cheung

Eur J Hum Genet. 2010 Feb; 18(2): 258–261. Published online 2009 Oct 21. doi: 10.1038/ejhg.2009.164

PMCID:: PMC2987195

Abstract Article PDF–357K

Select item 29871808.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Bregje WM van Bon, David A Koolen, Louise Brueton, Dominic McMullan, Klaske D Lichtenbelt, Lesley C Adès, Gregory Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, Fausta Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan P de Brouwer, Joris A Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, Santina Reitano, Daniela Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert BA de Vries

Eur J Hum Genet. 2010 Feb; 18(2): 163–170. Published online 2009 Oct 7. doi: 10.1038/ejhg.2009.152

Correction in:: Eur J Hum Genet. 2010 Oct; 18(10): 1171.

Correction in:: Eur J Hum Genet. 2010 Feb; 18(2): 170.

PMCID:: PMC2987180

Abstract Article PDF–628K

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