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Select item 29865901.

16p subtelomeric duplication: a clinically recognizable syndrome

Maria Cristina Digilio, Laura Bernardini, Anna Capalbo, Rossella Capolino, Maria Giulia Gagliardi, Bruno Marino, Antonio Novelli, Bruno Dallapiccola

Eur J Hum Genet. 2009 Sep; 17(9): 1135–1140. Published online 2009 Mar 18. doi: 10.1038/ejhg.2009.14

PMCID:: PMC2986590

Abstract Article PDF–235K

Select item 104045042.

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

Bibi Hajra, Abdullah, Nousheen Bibi, Fibhaa Syed, Asmat Ullah, Wasim Ahmad, Umm-e-Kalsoom

An Bras Dermatol. 2023 Sep-Oct; 98(5): 580–586. Published online 2023 May 12. doi: 10.1016/j.abd.2022.07.009

PMCID:: PMC10404504

Abstract Article PDF–2.3M

Select item 101787903.

Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review

Fereshteh Jamshidi, Ebrahim Shokouhian, Marzieh Mohseni, Kimia Kahrizi, Hossein Najmabadi, Mojgan Babanejad

Mol Genet Genomic Med. 2023 May; 11(5): e2168. Published online 2023 Mar 19. doi: 10.1002/mgg3.2168

PMCID:: PMC10178790

Abstract Article PDF–1.7M

Select item 25152944.

Alpha-mannosidosis

Dag Malm, Øivind Nilssen

Orphanet J Rare Dis. 2008; 3: 21. Published online 2008 Jul 23. doi: 10.1186/1750-1172-3-21

PMCID:: PMC2515294

Abstract Article PDF–667K

Select item 49821235.

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 55018736.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Cara M. Skraban, Constance F. Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, P.Y. Billie Au, Amber Begtrup, John A. Bernat, Lynne M. Bird, Kajia Cao, Arjan P.M. de Brouwer, Elizabeth H. Denenberg, Ganka Douglas, Kristin M. Gibson, Katheryn Grand, Alice Goldenberg, A. Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David M. Markie, Martina M. Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire L.S. Turner, Nienke E. Verbeek, Laurence E. Walsh, Taylor C. Warner, Patricia G. Wheeler, Dagmar Wieczorek, Alisha B. Wilkens, Evelien Zonneveld-Huijssoon, Deciphering Developmental Disorders Study, Tjitske Kleefstra, Stephen P. Robertson, Avni Santani, Koen L.I. van Gassen, Matthew A. Deardorff

Am J Hum Genet. 2017 Jul 6; 101(1): 139–148. Published online 2017 Jul 6. doi: 10.1016/j.ajhg.2017.06.002

PMCID:: PMC5501873

Abstract Article PDF–2.0M

Select item 67939637.

Sagliker syndrome in a patient with end-stage renal disease with secondary hyperparathyroidism

Muhammad Ajmal Panezai, Sana Ahmed, Gates B. Colbert

Proc (Bayl Univ Med Cent) 2019 Oct; 32(4): 624–626. Published online 2019 Jul 15. doi: 10.1080/08998280.2019.1624092

PMCID:: PMC6793963

Abstract Article PDF–213K

Select item 40865808.

Cornelia De-Lange Syndrome: A Case Report

Diana Noshir Mehta, Rupinder Bhatia

Int J Clin Pediatr Dent. 2013 May-Aug; 6(2): 115–118. Published online 2013 Aug 26. doi: 10.5005/jp-journals-10005-1201

PMCID:: PMC4086580

Abstract Article PDF–203K

Select item 49187229.

Pitt–Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge

Giuseppe Marangi, Marcella Zollino

J Pediatr Genet. 2015 Sep; 4(3): 168–176. Published online 2015 Sep 25. doi: 10.1055/s-0035-1564570

PMCID:: PMC4918722

Abstract Article PDF–1013K

Select item 678463910.

Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome

Won Jae Kim

Yeungnam Univ J Med. 2019 May; 36(2): 152–154. Published online 2018 Dec 17. doi: 10.12701/yujm.2019.00066

PMCID:: PMC6784639

Abstract Article PDF–829K

Select item 699779111.

A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients

Veysel S. Hançer, Murat Büyükdoğan, Anila Babameto-Laku

Mol Syndromol. 2020 Jan; 10(5): 272–275. Published online 2019 Aug 27. doi: 10.1159/000502597

PMCID:: PMC6997791

Abstract Article PDF–1.4M

Select item 808838612.

The “Prosthetic Orthodontic Approach”: An Application of the Biologically Oriented Preparation Technique Protocol

Luca Casula

Case Rep Dent. 2021; 2021: 5533160. Published online 2021 Apr 24. doi: 10.1155/2021/5533160

PMCID:: PMC8088386

Abstract Article PDF–3.1M

Select item 839637113.

A Chinese Boy with Mowat–Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene

Lin Wei, Xiao Han, Xue Li, Bingjuan Han, Wenying Nie

Pharmgenomics Pers Med. 2021; 14: 1041–1045. Published online 2021 Aug 23. doi: 10.2147/PGPM.S320128

PMCID:: PMC8396371

Abstract Article PDF–452K

Select item 1115506014.

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature

Ahmet Kablan, Elifcan Tasdelen

Ital J Pediatr. 2024; 50: 112. Published online 2024 Jun 5. doi: 10.1186/s13052-024-01681-2

PMCID:: PMC11155060

Abstract Article PDF–1.1M

Select item 952417815.

Having Multiple Renal Cysts in a Young Adult is not Always a Sign of Polycystic Kidney Disease

K Kaynar, S Kayıpmaz, AH Çebi, Ş Hüseynova

Balkan J Med Genet. 2021 Nov; 24(2): 83–87. Published online 2022 Jun 5. doi: 10.2478/bjmg-2021-0016

PMCID:: PMC9524178

Abstract Article PDF–1.2M

Select item 1082943316.

A Rare Cause of Intellectual Disability

Íris Oliveira, Andreia Fernandes, Mafalda Pereira, Márcia Rodrigues, Noémia Silva, Carla Mendonça

Cureus. 2024 Jan; 16(1): e51451. Published online 2024 Jan 1. doi: 10.7759/cureus.51451

PMCID:: PMC10829433

Abstract Article PDF–530K

Select item 15015917.

Oriented Asymmetric Divisions That Generate the Stomatal Spacing Pattern in Arabidopsis Are Disrupted by the too many mouths Mutation

Matt Geisler, Jeanette Nadeau, Fred D. Sack

Plant Cell. 2000 Nov; 12(11): 2075–2086. doi: 10.1105/tpc.12.11.2075

PMCID:: PMC150159

Abstract Article PDF–470K

Select item 232412218.

A novel locus for X-linked congenital cataract on Xq24

Jamie E. Craig, Kathryn L. Friend, Jozef Gecz, Kate M Rattray, Mark Troski, David A. Mackey, Kathryn P. Burdon

Mol Vis. 2008; 14: 721–726. Published online 2008 Apr 18.

PMCID:: PMC2324122

Abstract Article PDF–2.4M

Select item 168254319.

Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.

R V Lebo, E D Lynch, T D Bird, M S Golbus, D F Barker, P O'Connell, P F Chance

Am J Hum Genet. 1992 Jan; 50(1): 42–55.

PMCID:: PMC1682543

Summary Page Browse PDF–2.6M

Select item 249689920.

A periodic pattern generator for dental diversity

Gareth J Fraser, Ryan F Bloomquist, J Todd Streelman

BMC Biol. 2008; 6: 32. Published online 2008 Jul 14. doi: 10.1186/1741-7007-6-32

PMCID:: PMC2496899

Abstract Article PDF–3.3M

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