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Select item 81003931.

Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later

Timothy F. Tramontana, Theodore E. Wilson, Bryan E. Hainline

JIMD Rep. 2021 May; 59(1): 16–19. Published online 2021 Mar 31. doi: 10.1002/jmd2.12208

PMCID:: PMC8100393

Abstract Article PDF–499K

Select item 49477482.

Early prediction of typical outcome and mild developmental delay for prioritisation of service delivery for very preterm and very low birthweight infants: a study protocol

Rebecca Caesar, Roslyn N Boyd, Paul Colditz, Giovani Cioni, Robert S Ware, Kaye Salthouse, Julie Doherty, Maxine Jackson, Leanne Matthews, Tom Hurley, Anthony Morosini, Clare Thomas, Laxmi Camadoo, Erica Baer

BMJ Open. 2016; 6(7): e010726. Published online 2016 Jul 4. doi: 10.1136/bmjopen-2015-010726

PMCID:: PMC4947748

Abstract Article PDF–1.4M

Select item 51100623.

Samantha LP Schilit, Benjamin B Currall, Ruen Yao, Carrie Hanscom, Ryan L Collins, Vamsee Pillalamarri, Dong-Young Lee, Tammy Kammin, Cinthya J Zepeda-Mendoza, Tarja Mononen, Lisa S Nolan, James F Gusella, Michael E Talkowski, Jun Shen, Cynthia C Morton

Eur J Hum Genet. 2016 Nov; 24(11): 1622–1626. Published online 2016 Jul 6. doi: 10.1038/ejhg.2016.64

PMCID:: PMC5110062

Abstract Article PDF–1.1M

Select item 56399254.

Bi-allelic IARS Mutations in a Child with Intra-Uterine Growth Retardation, Neonatal Cholestasis, and Mild Developmental Delay

Naama Orenstein, Karin Weiss, Stephanie N. Oprescu, Rivka Shapira, Dvora Kidron, Lina Vanagaite-Basel, Anthony Antonellis, Maximilian Muenke

Clin Genet. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Clin Genet. 2017 Jun; 91(6): 913–917. Published online 2017 Feb 22. doi: 10.1111/cge.12930

PMCID:: PMC5639925

Abstract Article PDF–718K

Select item 29860505.

PTCH1 duplication in a family with microcephaly and mild developmental delay

Katarzyna Derwińska, Marta Smyk, Mitchell Lance Cooper, Patricia Bader, Sau Wai Cheung, Paweł Stankiewicz

Eur J Hum Genet. 2009 Feb; 17(2): 267–271. Published online 2008 Oct 1. doi: 10.1038/ejhg.2008.176

PMCID:: PMC2986050

Abstract Article PDF–173K

Select item 30825896.

Familial 6p22.2 Duplication Associates with Mild Developmental Delay and Increased SSADH Activity

Linda Siggberg, Aki Mustonen, Robert Schuit, Gajja S Salomons, Birthe Roos, K. Michael Gibson, Cornelis Jakobs, Jaakko Ignatius, Sakari Knuutila

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2011 Jun; 156(4): 448–453. Published online 2011 Mar 22. doi: 10.1002/ajmg.b.31180

PMCID:: PMC3082589

Abstract Article PDF–501K

Select item 57799597.

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization

Zoe Papadopoulou, Ioannis Papoulidis, Stavros Sifakis, Georgios Markopoulos, Annalisa Vetro, Angeliki-Maria Vlaikou, Monica Ziegler, Thomas Liehr, Loretta Thomaidis, Orsetta Zuffardi, Maria Syrrou, Kitsos George, Emmanouil Manolakos

Mol Med Rep. 2017 Dec; 16(6): 8808–8818. Published online 2017 Oct 10. doi: 10.3892/mmr.2017.7760

PMCID:: PMC5779959

Abstract Article PDF–1.8M

Select item 46549538.

A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes

Kelly L. Jones, Ulrike Schwarze, Margaret P. Adam, Peter H. Byers, Heather C. Mefford

Am J Med Genet A. Author manuscript; available in PMC 2015 Nov 21.

Published in final edited form as: Am J Med Genet A. 2015 Nov; 167(11): 2691–2696. Published online 2015 Jun 18. doi: 10.1002/ajmg.a.37209

PMCID:: PMC4654953

Abstract Article PDF–689K

Select item 47163349.

Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period

Inês Salva, Carolina Albuquerque, Ana Moreira, Catarina Dâmaso

BMJ Case Rep. 2016; 2016: bcr2015213127. Published online 2016 Jan 12. doi: 10.1136/bcr-2015-213127

PMCID:: PMC4716334

Abstract Article PDF–430K

Select item 478885410.

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome

Arianna Tucci, Luisa Ronzoni, Carlo Arduino, Paola Salmin, Susanna Esposito, Donatella Milani

BMC Med Genet. 2016; 17: 22. Published online 2016 Mar 11. doi: 10.1186/s12881-016-0287-1

PMCID:: PMC4788854

Abstract Article PDF–751K

Select item 490265411.

Familial Congenital Unilateral Cerebral Ventriculomegaly: Delineation of a Distinct Genetic Disorder

Maha S. Zaki, Hanan H. Afifi, AJ. Barkovich, Joseph G. Gleeson

Am J Med Genet A. Author manuscript; available in PMC 2016 Jun 10.

Published in final edited form as: Am J Med Genet A. 2009 Aug; 149A(8): 1789–1794. doi: 10.1002/ajmg.a.32983

PMCID:: PMC4902654

Abstract Article PDF–728K

Select item 497408412.

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 509648113.

Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients

Adrijan Sarajlija, Tatjana Milenkovic, Maja Djordjevic, Katarina Mitrovic, Sladjana Todorovic, Bozica Kecman, Khalid Hussain

J Clin Res Pediatr Endocrinol. 2016 Jun; 8(2): 228–231. Published online 2016 Jun 6. doi: 10.4274/jcrpe.2436

PMCID:: PMC5096481

Abstract Article PDF–88K

Select item 513374914.

Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time

Maria Salomon-Estebanez, Sarah E. Flanagan, Sian Ellard, Lindsey Rigby, Louise Bowden, Zainab Mohamed, Jacqueline Nicholson, Mars Skae, Caroline Hall, Ross Craigie, Raja Padidela, Nuala Murphy, Tabitha Randell, Karen E. Cosgrove, Mark J. Dunne, Indraneel Banerjee

Orphanet J Rare Dis. 2016; 11: 163. Published online 2016 Dec 1. doi: 10.1186/s13023-016-0547-3

PMCID:: PMC5133749

Abstract Article PDF–674K

Select item 535639615.

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss

Khushnooda Ramzan, Bassam Bin-Abbas, Lolwa Al-Jomaa, Rabab Allam, Mohammed Al-Owain, Faiqa Imtiaz

BMC Endocr Disord. 2017; 17: 17. Published online 2017 Mar 16. doi: 10.1186/s12902-017-0164-8

PMCID:: PMC5356396

Abstract Article PDF–3.1M

Select item 575819716.

A boy with 13.34-Mb interstitial deletion of chromosome 4p15: A new case report and review of the literature

Anca Florentina Mitroi, Mariana Aschie, Adriana Apostol, Costel Brinzan, Georgeta Cozaru, Adrian Nelutu Mitroi

Medicine (Baltimore) 2017 Dec; 96(51): e9301. Published online 2017 Dec 22. doi: 10.1097/MD.0000000000009301

PMCID:: PMC5758197

Abstract Article PDF–317K

Select item 439596817.

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

Select item 598528118.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, Daniela Karall, Sergio Guerrero-Castillo, Daisy Dalloyaux, Mariël van den Brand, Sanne van Kraaij, Ellyze van Asbeck, Zahra Assouline, Marlene Rio, Pascale de Lonlay, Sabine Scholl-Buergi, David F.G.J. Wolthuis, Alexander Hoischen, Richard J. Rodenburg, Wolfgang Sperl, Zsolt Urban, Ulrich Brandt, Johannes A. Mayr, Sunnie Wong, Arjan P.M. de Brouwer, Leo Nijtmans, Arnold Munnich, Agnès Rötig, Ron A. Wevers, Metodi D. Metodiev, Eva Morava

Am J Hum Genet. 2018 Apr 5; 102(4): 685–695. Published online 2018 Mar 22. doi: 10.1016/j.ajhg.2018.02.012

PMCID:: PMC5985281

Abstract Article PDF–2.6M

Select item 606766019.

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

M Balasubramanian, J Hurst, S Brown, NJ Bishop, P Arundel, C DeVile, RC Pollitt, L Crooks, D Longman, JF Caceres, F Shackley, S Connolly, JH Payne, AC Offiah, D Hughes, DDD Study, MJ Parker, W Hide, T Skerry

Bone. Author manuscript; available in PMC 2018 Jul 31.

Published in final edited form as: Bone. 2017 Jan; 94: 65–74. Published online 2016 Oct 24. doi: 10.1016/j.bone.2016.10.023

PMCID:: PMC6067660

Abstract Article PDF–2.6M

Select item 613475820.

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report

Chi-Chun Ho, Lilian Li-Yan Tsung, Kam-Tim Liu, Wing-Tat Poon

BMC Med Genet. 2018; 19: 162. Published online 2018 Sep 12. doi: 10.1186/s12881-018-0679-5

PMCID:: PMC6134758

Abstract Article PDF–1.6M

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RecName: Full=F-box/WD repeat-containing protein 10; AltName: Full=F-box and WD-...
RecName: Full=F-box/WD repeat-containing protein 10; AltName: Full=F-box and WD-40 domain-containing protein 10
gi|81910136|sp|Q5SUS0.1|FBW10_MOUSE

Protein
chemokine-like protein TAFA-4 precursor [Homo sapiens]
chemokine-like protein TAFA-4 precursor [Homo sapiens]
gi|53988383|ref|NP_001005527.1|

Protein

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