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Select item 63995171.

Two Proximally Close Priority Candidate Genes for diplopodia-1, an Autosomal Inherited Craniofacial-Limb Syndrome in the Chicken: MRE11 and GPR83

Elizabeth A O’Hare, Parker B Antin, Mary E Delany

J Hered. 2019 Mar; 110(2): 194–210. Published online 2018 Dec 31. doi: 10.1093/jhered/esy071

PMCID:: PMC6399517

Article PDF–13M

Select item 53127542.

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

Uppala Radhakrishna, Swapan K Nath, Ken McElreavey, Uppala Ratnamala, Celi Sun, Amit K Maiti, Maryline Gagnebin, Frédérique Béna, Heather L Newkirk, Andrew J Sharp, David B Everman, Jeffrey C Murray, Charles E Schwartz, Stylianos E Antonarakis, Merlin G Butler

J Med Genet. Author manuscript; available in PMC 2017 Feb 16.

Published in final edited form as: J Med Genet. 2012 Apr; 49(4): 270–276. doi: 10.1136/jmedgenet-2012-100826

PMCID:: PMC5312754

Article PDF–1.6M

Select item 37258213.

Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta

Víctor Martínez-Glez, Maria Valencia, José A. Caparrós-Martín, Mona Aglan, Samia Temtamy, Jair Tenorio, Veronica Pulido, Uschi Lindert, Marianne Rohrbach, David Eyre, Cecilia Giunta, Pablo Lapunzina, Victor L. Ruiz-Perez

Hum Mutat. Author manuscript; available in PMC 2013 Jul 29.

Published in final edited form as: Hum Mutat. 2012 Feb; 33(2): 343–350. Published online 2011 Nov 30. doi: 10.1002/humu.21647

PMCID:: PMC3725821

Article PDF–1.1M

Select item 17350734.

Omphalocele in three generations with autosomal dominant transmission

S Kanagawa, M Begleiter, D Ostlie, G Holcomb, W Drake, M Butler

J Med Genet. 2002 Mar; 39(3): 184–185. doi: 10.1136/jmg.39.3.184

PMCID:: PMC1735073

Summary PDF–55K

Select item 10495485.

Umbilical cord hernia in a child with autosomal recessive chondrodysplasia punctata.

O Chandavasu, F Desposito

J Med Genet. 1986 Feb; 23(1): 84–86. doi: 10.1136/jmg.23.1.84

PMCID:: PMC1049548

Summary Page Browse PDF–659K

Select item 95314406.

2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report

Sebastian Giraldo-Ocampo, Harry Pachajoa

BMC Pediatr. 2022; 22: 569. Published online 2022 Oct 4. doi: 10.1186/s12887-022-03620-8

PMCID:: PMC9531440

Article PDF–843K

Select item 86827457.

In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events

Jeremy P Goering, Luke W Wenger, Marta Stetsiv, Michael Moedritzer, Everett G Hall, Dona Greta Isai, Brittany M Jack, Zaid Umar, Madison K Rickabaugh, Andras Czirok, Irfan Saadi

Hum Mol Genet. 2022 Jan 1; 31(1): 18–31. Published online 2021 Jul 23. doi: 10.1093/hmg/ddab211

PMCID:: PMC8682745

Article PDF–3.2M

Select item 86062048.

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi, Afshin Bahramy, Navid Almadani, Masoud Garshasbi

Mol Genet Genomic Med. 2021 Nov; 9(11): e1834. Published online 2021 Oct 12. doi: 10.1002/mgg3.1834

PMCID:: PMC8606204

Article PDF–962K

Select item 79888379.

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 613475810.

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

Article PDF–1.6M

Select item 611928111.

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

N. Riise, B. R. Lindberg, M. A. Kulseth, S. O. Fredwall, R. Lundby, M.-E. Estensen, L. Drolsum, E. Merckoll, K. Krohg-Sørensen, B. Paus

BMC Med Genet. 2018; 19: 155. Published online 2018 Aug 31. doi: 10.1186/s12881-018-0671-0

PMCID:: PMC6119281

Article PDF–2.4M

Select item 488156512.

Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series

Abdellah Tebani, Lahouaria Zanoutene-Cheriet, Zoubir Adjtoutah, Lenaig Abily-Donval, Carole Brasse-Lagnel, Annie Laquerrière, Stephane Marret, Abla Chalabi Benabdellah, Soumeya Bekri

Int J Mol Sci. 2016 May; 17(5): 743. Published online 2016 May 17. doi: 10.3390/ijms17050743

PMCID:: PMC4881565

Article PDF–196K

Select item 446819313.

A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle

Bertram Brenig, Ekkehard Schütz, Michael Hardt, Petra Scheuermann, Markus Freick

PLoS One. 2015; 10(6): e0129208. Published online 2015 Jun 15. doi: 10.1371/journal.pone.0129208

PMCID:: PMC4468193

Article PDF–5.4M

Select item 429494214.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, Cassandre Labelle-Dumais, Kieran M Short, Ryan Chao, Mani Yahyavi, Emilia K Bijlsma, Catherine Chu, Stacey Musone, Ashleigh Wheatley, Pui-Yan Kwok, Sandra Marles, Jean-Pierre Fryns, A Murat Maga, Mohamed G Hassan, Douglas B Gould, Lohith Madireddy, Chumei Li, Timothy C Cox, Ian Smyth, Albert E Chudley, Martin Zenker

J Med Genet. Author manuscript; available in PMC 2015 Jan 15.

Published in final edited form as: J Med Genet. 2011 Jun; 48(6): 375–382. Published online 2011 Apr 20. doi: 10.1136/jmg.2011.089631

PMCID:: PMC4294942

Article PDF–1.3M

Select item 348711815.

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

Stephen R.F. Twigg, Deborah Lloyd, Dagan Jenkins, Nursel E. Elçioglu, Christopher D.O. Cooper, Nouriya Al-Sannaa, Ali Annagür, Gabriele Gillessen-Kaesbach, Irina Hüning, Samantha J.L. Knight, Judith A. Goodship, Bernard D. Keavney, Philip L. Beales, Opher Gileadi, Simon J. McGowan, Andrew O.M. Wilkie

Am J Hum Genet. 2012 Nov 2; 91(5): 897–905. doi: 10.1016/j.ajhg.2012.08.027

PMCID:: PMC3487118

Article PDF–623K

Select item 173429916.

A new lethal syndrome of exomphalos, short limbs, and macrogonadism

L. Faivre, A. Delezoide, F. Narcy, F. Razavi, R. Bouvier, V. Cormier-Daire, M. Briard, S. Lyonnet, M. Vekemans, A. Munnich, M. Le Merrer

J Med Genet. 1999 Feb; 36(2): 131–136.

PMCID:: PMC1734299

Summary PDF–216K

Select item 1068146917.

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report

Paola Andrea Duque-Cordoba, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, Harry Pachajoa

Medicine (Baltimore) 2023 Nov 24; 102(47): e35600. Published online 2023 Nov 24. doi: 10.1097/MD.0000000000035600

PMCID:: PMC10681469

Article PDF–567K

Select item 972666718.

Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature

Nesma M. Elaraby, Hoda A. Ahmed, Neveen A. Ashaat, Sameh Tawfik, Mahmoud K. H. Ahmed, Nehal F. Hassib, Engy A. Ashaat

J Mol Neurosci. 2022; 72(11): 2242–2251. Published online 2022 Oct 17. doi: 10.1007/s12031-022-02074-y

PMCID:: PMC9726667

Article PDF–1.8M

Select item 944896219.

Fontaine progeroid syndrome—A case report

Sinéad Lally, Nicola Walsh, Janna Kenny, Orla Franklin, Melanie Cotter, Sarah Richardson, Fiona McEligott, Alan Finan

Clin Case Rep. 2022 Sep; 10(9): e6291. Published online 2022 Sep 6. doi: 10.1002/ccr3.6291

PMCID:: PMC9448962

Article PDF–573K

Select item 767265920.

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

A. Haghighi, Z. Kavehmanesh, A. Haghighi, F. Salehzadeh, F. Santos-Simarro, L. Van Maldergem, L. Cimbalistiene, F. Collins, M. Chopra, S. Al-Sinani, S. Dastmalchian, D.C. de Silva, H. Bakhti, A. Garg, P. Hilbert

Clin Genet. Author manuscript; available in PMC 2020 Nov 18.

Published in final edited form as: Clin Genet. 2016 Apr; 89(4): 434–441. Published online 2015 Jul 20. doi: 10.1111/cge.12623

PMCID:: PMC7672659

Article PDF–370K

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