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Showing 1 to 7 of 7 entries
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Identification of Critical Region Responsible for Split Hand/Foot Malformation Type 3 (SHFM3) Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Microarray Data.

Microarrays (Basel, Switzerland)

Li CF, Angione K, Milunsky JM.
PMID: 27600068
Microarrays (Basel). 2015 Dec 24;5(1). doi: 10.3390/microarrays5010002.

Split hand/foot malformation (SHFM) is a limb malformation with underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the remaining digits. There are six types of SHFM. Here, we report a boy with...

Correction to: A contiguous microdeletion syndrome at Xp22.13 with non-obstructive azoospermia and congenital cataracts.

Journal of assisted reproduction and genetics

Milunsky A, Milunsky JM, Dong W, Hovhannisyan H, Oates RD.
PMID: 34146212
J Assist Reprod Genet. 2021 Sep;38(9):2501. doi: 10.1007/s10815-021-02257-3.

No abstract available.

Does solar irradiation drive community assembly of vulture plumage microbiotas?.

Animal microbiome

Graves GR, Matterson KO, Milensky CM, Schmidt BK, O'Mahoney MJV, Drovetski SV.
PMID: 33499993
Anim Microbiome. 2020 Jul 14;2(1):24. doi: 10.1186/s42523-020-00043-7.

BACKGROUND: Stereotyped sunning behaviour in birds has been hypothesized to inhibit keratin-degrading bacteria but there is little evidence that solar irradiation affects community assembly and abundance of plumage microbiota. The monophyletic New World vultures (Cathartiformes) are renowned for scavenging...

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.
PMID: 30696996
Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y.

The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the...

FISH Variants with D15Z1.

Journal of the Association of Genetic Technologists

Shim SH, Pan A, Huang XL, Tonk VS, Varma SK, Milunsky JM, Wyandt HE.
PMID: 15213412
J Assoc Genet Technol. 2003;29(4):146-151.

We present our experience with cross-hybridization of D15Z1, used in combination with D15S10, D15S11 or SNRPN, in 109 clinical cases referred for Angelman syndrome (AS), Prader-Willi syndrome (PWS), for autism to rule out duplication of 15q11.2, or to identify...

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

Journal of pediatric genetics

Flore LA, Leon E, Maher TA, Milunsky JM.
PMID: 27625812
J Pediatr Genet. 2012 Jun;1(2):125-9. doi: 10.3233/PGE-2012-020.

Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM...

Reply to nightingale and meister.

American journal of human genetics

Milunsky A.
PMID: 17948597
Am J Hum Genet. 1988 Dec;43(6):980.

No abstract available.

Showing 1 to 7 of 7 entries