PubMed for id: 477256

Year	Number of Results
1982	1
1987	1
1990	1
1993	3
1994	1
1997	2
1998	1
2000	1
2002	1
2004	1
2006	1
2011	1
2016	1
2017	1
2018	2
2019	1
2020	2
2022	2
2023	5
2024	0

1

Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?

Pellegrino JE, McDonald-McGinn DM, Schneider A, Markowitz RI, Zackai EH. Pellegrino JE, et al. Am J Med Genet. 1997 May 16;70(2):159-65. Am J Med Genet. 1997. PMID: 9128936

2

Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene?

Carmi R, Meizner I, Katz M. Carmi R, et al. Am J Med Genet. 1990 Jul;36(3):313-5. doi: 10.1002/ajmg.1320360314. Am J Med Genet. 1990. PMID: 2363430

3

Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.

Luo X, Yang Z, Zeng J, Chen J, Chen N, Jiang X, Wei Q, Yi P, Xu J. Luo X, et al. Mol Genet Genomic Med. 2023 May;11(5):e2145. doi: 10.1002/mgg3.2145. Epub 2023 Feb 3. Mol Genet Genomic Med. 2023. PMID: 36734119 Free PMC article.

4

Focal Dermal Hypoplasia with Osteopathia Striata.

Almashaqbeh SS, Aljammal DS, Alharahsheh HM, Alqudah SF, Alkrimeen RA. Almashaqbeh SS, et al. Med Arch. 2022 Aug;76(4):301-304. doi: 10.5455/medarh.2022.76.301-304. Med Arch. 2022. PMID: 36313953 Free PMC article.

5

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.

Wild KT, Gordon T, Bhoj EJ, Du H, Jhangiani SN, Posey JE, Lupski JR, Scott DA, Zackai EH. Wild KT, et al. Am J Med Genet A. 2020 Dec;182(12):2919-2925. doi: 10.1002/ajmg.a.61878. Epub 2020 Sep 21. Am J Med Genet A. 2020. PMID: 32954677 Free PMC article.

6

[PAGOD syndrome and vascular anomalies: is a defect embryonic angiogenesis? A case report and review].

Delgado-Luengo W, Fleitas-Cabello H, Solís-Añez E, Luisa Hernández-Rodríguez M, Morales-Machín A, Delgado-Luengo J. Delgado-Luengo W, et al. Invest Clin. 2016 Dec;57(4):388-401. Invest Clin. 2016. PMID: 29938988 Review. Spanish.

7

STAR syndrome plus: The first description of a female patient with the lethal form.

Bedeschi MF, Giangiobbe S, Paganini L, Tabano S, Silipigni R, Colombo L, Crippa BL, Lalatta F, Guerneri S, Miozzo M. Bedeschi MF, et al. Am J Med Genet A. 2017 Dec;173(12):3226-3230. doi: 10.1002/ajmg.a.38484. Epub 2017 Oct 31. Am J Med Genet A. 2017. PMID: 29088509

8

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.

Smigiel R, Jakubiak A, Lombardi MP, Jaworski W, Slezak R, Patkowski D, Hennekam RC. Smigiel R, et al. Am J Med Genet A. 2011 May;155A(5):1102-5. doi: 10.1002/ajmg.a.33895. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484999 Review.

9

Bigenic Cre/loxP, puDeltatk conditional genetic ablation.

Chen YT, Levasseur R, Vaishnav S, Karsenty G, Bradley A. Chen YT, et al. Nucleic Acids Res. 2004 Nov 23;32(20):e161. doi: 10.1093/nar/gnh158. Nucleic Acids Res. 2004. PMID: 15561996 Free PMC article.

10

Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling.

Chiao E, Fisher P, Crisponi L, Deiana M, Dragatsis I, Schlessinger D, Pilia G, Efstratiadis A. Chiao E, et al. Dev Biol. 2002 Mar 1;243(1):185-206. doi: 10.1006/dbio.2001.0554. Dev Biol. 2002. PMID: 11846487 Free article.

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