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Select item 99050561.

Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment

Giulia Rodari, Roberta Villa, Matteo Porro, Silvana Gangi, Maria Iascone, Francesca Elli, Federico Giacchetti, Eriselda Profka, Valentina Collini, Alberta Dall’Antonia, Maura Arosio, Giovanna Mantovani, Maria Francesca Bedeschi, Claudia Giavoli

Eur J Hum Genet. 2023 Feb; 31(2): 195–201. Published online 2022 Nov 9. doi: 10.1038/s41431-022-01220-9

PMCID:: PMC9905056

Abstract Article PDF–989K

Select item 51469682.

The defining DNA methylation signature of Floating-Harbor Syndrome

Rebecca L. Hood, Laila C. Schenkel, Sarah M. Nikkel, Peter J. Ainsworth, Guillaume Pare, Kym M. Boycott, Dennis E. Bulman, Bekim Sadikovic

Sci Rep. 2016; 6: 38803. Published online 2016 Dec 9. doi: 10.1038/srep38803

PMCID:: PMC5146968

Abstract Article PDF–1.5M

Select item 48387913.

Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients

Layla Damasceno Espirito Santo, Lília Maria Azevedo Moreira, Mariluce Riegel

Biomed Res Int. 2016; 2016: 5467083. Published online 2016 Apr 7. doi: 10.1155/2016/5467083

PMCID:: PMC4838791

Abstract Article PDF–1.1M

Select item 48821094.

Cytogenomic Delineation and Clinical Follow-up of Two Siblings with an 8.5 Mb 6q24.2-q25.2 Deletion Inherited From a Paternal Insertion

Vera Ayres Meloni, Roberta Santos Guilherme, Mariana Moyses Oliveira, Michele Migliavacca, Sylvia Satomi Takeno, Nara Lygia Macena Sobreira, Maria de Fatima Faria Soares, Claudia Berlim de Mello, Maria Isabel Melaragno

Am J Med Genet A. Author manuscript; available in PMC 2016 May 26.

Published in final edited form as: Am J Med Genet A. 2014 Sep; 164A(9): 2378–2384. Published online 2014 Jun 4. doi: 10.1002/ajmg.a.36631

PMCID:: PMC4882109

Abstract Article PDF–716K

Select item 49081495.

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

Lia Boyle, Mirjam M.C. Wamelink, Gajja S. Salomons, Birthe Roos, Ana Pop, Andrew Dauber, Vivian Hwa, Melissa Andrew, Jessica Douglas, Murray Feingold, Nancy Kramer, Sulagna Saitta, Kyle Retterer, Megan T. Cho, Amber Begtrup, Kristin G. Monaghan, Julia Wynn, Wendy K. Chung

Am J Hum Genet. 2016 Jun 2; 98(6): 1235–1242. Published online 2016 Jun 2. doi: 10.1016/j.ajhg.2016.03.030

PMCID:: PMC4908149

Abstract Article PDF–1.1M

Select item 49740846.

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Kosuke Izumi, Maggie Brett, Eriko Nishi, Séverine Drunat, Ee-Shien Tan, Katsunori Fujiki, Sophie Lebon, Breana Cham, Koji Masuda, Michiko Arakawa, Adeline Jacquinet, Yusuke Yamazumi, Shu-Ting Chen, Alain Verloes, Yuki Okada, Yuki Katou, Tomohiko Nakamura, Tetsu Akiyama, Pierre Gressens, Roger Foo, Sandrine Passemard, Ene-Choo Tan, Vincent El Ghouzzi, Katsuhiko Shirahige

Am J Hum Genet. 2016 Aug 4; 99(2): 451–459. Published online 2016 Jul 28. doi: 10.1016/j.ajhg.2016.06.011

PMCID:: PMC4974084

Abstract Article PDF–1.1M

Select item 49821237.

Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report

Siobhán O’Keefe, Dieter T. Wefuan, Jennifer B. Humberson, Karen Schmidt, John Wiley

J Med Case Rep. 2016; 10: 223. Published online 2016 Aug 12. doi: 10.1186/s13256-016-0997-1

PMCID:: PMC4982123

Abstract Article PDF–731K

Select item 50496098.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher P. Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortes, Karen L. David, Anne Destree, Anna Duat‐Rodriguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begona Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepcion Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth A Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Helio Pedro, Eniko K. Pivnick, Cynthia M. Powell, Linda Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta Seashore, Christian P. Schaaf, Angela Scheuerle, Meredith Schultz, Elizabeth Schorry, Rhonda Schnur, Elizabeth Siqveland, Amanda Tkachuk, James Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie Wallace, Charles Williams, Elaine Zackai, Jonathan Zonana, Conxi Lazaro, Kathleen Claes, Bruce Korf, Yolanda Martin, Eric Legius, Ludwine Messiaen

Hum Mutat. 2015 Nov; 36(11): 1052–1063. Published online 2015 Aug 21. doi: 10.1002/humu.22832

PMCID:: PMC5049609

Abstract Article PDF–226K

Select item 51110059.

KBG syndrome involving a single-nucleotide duplication in ANKRD11

Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J. Lyon

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001131. doi: 10.1101/mcs.a001131

PMCID:: PMC5111005

Abstract Article PDF–2.0M

Select item 513433110.

A Novel Rasopathy Caused by Recurrent De Novo Missense Mutations In PPP1CB Closely Resembles Noonan Syndrome with Loose Anagen Hair

Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett, Laura Baker, Jessica Tusi, Nina Powell-Hamilton, Deborah Stabley, Katia Sol-Church, Andrew E. Timms, William B. Dobyns

Am J Med Genet A. Author manuscript; available in PMC 2016 Dec 2.

Published in final edited form as: Am J Med Genet A. 2016 Sep; 170(9): 2237–2247. Published online 2016 Jun 5. doi: 10.1002/ajmg.a.37781

PMCID:: PMC5134331

Abstract Article PDF–1.1M

Select item 553319811.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi

Eur J Hum Genet. 2017 Jun; 25(6): 694–701. Published online 2017 Apr 19. doi: 10.1038/ejhg.2017.49

PMCID:: PMC5533198

Abstract Article PDF–760K

Select item 515537712.

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

Servi J. C. Stevens, Anthonie J. van Essen, Conny M. A. van Ravenswaaij, Abdallah F. Elias, Jaclyn A. Haven, Stefan H. Lelieveld, Rolph Pfundt, Willy M. Nillesen, Helger G. Yntema, Kees van Roozendaal, Alexander P. Stegmann, Christian Gilissen, Han G. Brunner

Genome Med. 2016; 8: 131. Published online 2016 Dec 13. doi: 10.1186/s13073-016-0386-9

PMCID:: PMC5155377

Abstract Article PDF–781K

Select item 515976813.

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre

Eur J Hum Genet. 2017 Jan; 25(1): 43–51. Published online 2016 Nov 2. doi: 10.1038/ejhg.2016.133

PMCID:: PMC5159768

Abstract Article PDF–1.1M

Select item 520670414.

Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes

Jiani Yin, Wu Chen, Hongxing Yang, Mingshan Xue, Christian P. Schaaf

Sci Rep. 2017; 7: 39941. Published online 2017 Jan 3. doi: 10.1038/srep39941

PMCID:: PMC5206704

Abstract Article PDF–1.3M

Select item 537020415.

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau

J Hum Genet. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: J Hum Genet. 2017 Apr; 62(4): 465–471. Published online 2016 Dec 22. doi: 10.1038/jhg.2016.151

PMCID:: PMC5370204

Abstract Article PDF–478K

Select item 539235716.

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson

Eur J Hum Genet. 2017 May; 25(5): 552–559. Published online 2017 Mar 22. doi: 10.1038/ejhg.2017.27

PMCID:: PMC5392357

Abstract Article PDF–2.6M

Select item 543510117.

Clinical and genetic aspects of KBG syndrome

Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton‐Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Kathryn Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury‐Ecob, Fiona Stewart, Peter Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, DDD Study, Sarah Smithson

Am J Med Genet A. 2016 Nov; 170(11): 2835–2846. Published online 2016 Sep 26. doi: 10.1002/ajmg.a.37842

PMCID:: PMC5435101

Abstract Article PDF–1.3M

Select item 549503118.

SPG20 mutation in three siblings with familial hereditary spastic paraplegia

Leila Dardour, Filip Roelens, Valerie Race, Erika Souche, Maureen Holvoet, Koen Devriendt

Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001537. doi: 10.1101/mcs.a001537

PMCID:: PMC5495031

Abstract Article PDF–911K

Select item 556144819.

Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins

Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka Offiah, John Barton, Susan Price, John Schwabe, Krishna Chatterjee

Thyroid. 2017 Jul 1; 27(7): 973–982. Published online 2017 Jul 1. doi: 10.1089/thy.2017.0157

PMCID:: PMC5561448

Abstract Article PDF–1.1M

Select item 439596820.

HOXA genes cluster: clinical implications of the smallest deletion

Lidia Pezzani, Donatella Milani, Francesca Manzoni, Marco Baccarin, Rosamaria Silipigni, Silvana Guerneri, Susanna Esposito

Ital J Pediatr. 2015; 41: 31. Published online 2015 Apr 10. doi: 10.1186/s13052-015-0137-3

PMCID:: PMC4395968

Abstract Article PDF–2.1M

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