✦ LIBER ✦

Association of prune belly with cleft lip

✍ Scribed by Matsuzaki, Kyoichi; Nakamura, Takeyuki; Tahara, Takako; Sozumi, Takuya

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 7 KB
Volume: 61
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960102)61:1<79::aid-ajmg16>3.0.co;2-t

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Dominant coloboma-microphthalmos syndrom

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

✍ Ravine, David; Ragge, Nicola K.; Stephens, Dafydd; Oldridge, Michael; Wilkie, An 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 2 views

Ocular colobomas and microphthalmos, isolated or as part of a syndrome, are usually sporadic and only rarely found in large families. A 4-generation family with autosomal dominant uveal coloboma and microphthalmos associated with cleft lip and palate was re-evaluated. Wide variability in expression

Nonsyndromic cleft lip and palate is not

Nonsyndromic cleft lip and palate is not associated with cancer or other birth defects

✍ Steinwachs, Ellen F.; Amos, Chris; Johnston, Dennis; Mulliken, John; Stal, Samue 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 2 views

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is one of the most common human malformations with an average prevalence of 1 in 1,000 live births. The cause(s) of NSCLP remain unclear as the relative roles of genes, of the environment, and/or of chance alone are unknown. The purpose of

Evaluation of family history data for Da

Evaluation of family history data for Danish twins with nonsyndromic cleft lip with or without cleft palate

✍ Mitchell, Laura E.; Christensen, Kaare 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB 👁 2 views

Twin studies have played an important role in attempts to unravel the genetic contribution to diseases with adult onset, but have not been extensively utilized in efforts to establish the genetic contribution to common congenital anomalies. The paucity of twin research on congenital anomalies is par

X-linked mental retardation associated w

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

✍ Siderius, Liesbeth E.; Hamel, Ben C.J.; van Bokhoven, Hans; de Jager, Frank; van 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 1 views

A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at =0.0 for the DXS441 locus with flanking markers DXS337 and DXS990, defining the region Xp11.3-q21.3 with a linkage interval

Survey of genetic counselors and clinica

Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate

✍ Wyszynski, Diego F.; Zeiger, Joanna; Tilli, Maddalena T.; Bailey-Wilson, Joan E. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 2 views

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common congenital malformation affecting about 1/1,000 caucasian infants. Although the familial clustering of CL/P has been studied thoroughly, estimation of recurrence risk for genetic counseling purposes can be difficult. A survey was

Achondroplasia associated with Down synd

Achondroplasia associated with Down syndrome

✍ Carakushansky, Gerson; Carakushansky, Gerson; Rosembaum, Stella; Ribeiro, Marcia 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 5 KB 👁 2 views