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Patrick Brophy Research Lab - Mutational Analysis | kidneygenes.com Reviews
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1 Edith Potter
2 genetic analysis
3 genetic diseases
4 genetic research
5 brachio-oto-renal syndrome
6 pediatric nephrology
7 nephrology
8 renal agenesis
9 bilateral renal agenesis
10 BRA
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Patrick Brophy Research Lab - Mutational Analysis | kidneygenes.com Reviews

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Patrick Brophy Research Lab - Mutational Analysis

http://www.kidneygenes.com/biobrophy.htm

Patrick Brophy, M.D. Assistant Professor of Pediatrics. Email Dr. Brophy [. Clarke J, Honey EM, Bekker E, Snyman LC, Lord C, Raymond RM Jr, Brophy PD. A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. Clin Genet 2006: 70 (1): 63-67. Clarke J, Honey EM, Raymond RM Jr, Lord C, Brophy PD. Identification of a novel nonsense mutation in the EYA1 gene associated with branchiootic/branchio-oto-renal syndrome. Clarke J, Raymond RM Jr.

2

Patrick Brophy Research Lab - Mutational Analysis

http://www.kidneygenes.com/labstaff.htm

Assistant Professor, University of Iowa, Department of Pediatrics. Research Laboratory Assistant III, University of Iowa, Department of Pediatrics. 3) Jeffrey Murray,. Professor, University of Iowa, Department of Pediatrics. 4) Jeffrey Segar,. Professor, University of Iowa, Department of Pediatrics - Neonatology. 5) Richard Smith,. Professor and Vice Chair, University of Iowa, Department of Otolarynology Head and Neck Surgery. Patrick Brophy, M.D.

3

Patrick Brophy Research Lab - Mutational Analysis

http://www.kidneygenes.com/potter.htm

Bilateral Renal Agenesis (Potter Sequence/Syndrome). Primary Researcher: Jason Clarke. Email Jason Clarke [. To date, genetic lesions associated with BRA have not been identified. However, our laboratory is currently enrolling qualified participant families for the identification and mutational analysis of genetic lesions associated with BRA (Potter Sequence/Syndrome). Consent Form and Health Questionnaire. Consent Form and Health Questionnaire. Consent Form and Health Questionnaire. If you are enrolling...

4

Patrick Brophy Research Lab - Mutational Analysis

http://www.kidneygenes.com/index.htm

Approximately 150,000 babies are born each year with some type of birth defect. Congenital anatomic anomalies of the genitourinary (GU) tract are more common than those of any other organ system, affecting as many as 1 in 10 babies and are responsible for roughly 40% of the cases of childhood end-stage renal failure in the United States. Thank you for taking the time to view our website and support our research. Patrick Brophy, M.D.

5

Patrick Brophy Research Lab - Mutational Analysis

http://www.kidneygenes.com/links.htm

These links are provided as resources for physicians and other visitors to this website. The researchers associated with this website, and the University of Michigan, are not responsible for the content of these sites. If there is a problem with any of these links please notify us at info@kidneygenes.com. University of Michigan Medical School. Potter's Syndrome Support Group (website). Potter's Syndrome Support Group (forum). Diabetes and Digestive and Kidney Diseases. National Institutes of Health.

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From Under the Weeping Willow: 12 Days of Christmas With You in Heaven

http://fromundertheweepingwillow.blogspot.com/2011/11/12-days-of-christmas-with-you-in-heaven.html

May the road rise up to meet you. May the wind always be at your back. May the sun shine warm upon your face, and rains fall soft upon your fields. And until we meet again, May God hold you in the palm of His hand. Sunday, December 11, 2011. 12 Days of Christmas With You in Heaven. We purchased and began Eli's stocking last year while I was pregnant with him but before his Potter's Syndrome diagnosis. After the diagnosis, it was packed away. Here is a picture of the progress we made. These holiday ideas ...

fromundertheweepingwillow.blogspot.com fromundertheweepingwillow.blogspot.com

From Under the Weeping Willow: December 2014

http://fromundertheweepingwillow.blogspot.com/2014_12_01_archive.html

May the road rise up to meet you. May the wind always be at your back. May the sun shine warm upon your face, and rains fall soft upon your fields. And until we meet again, May God hold you in the palm of His hand. Monday, December 1, 2014. Holidaze and The Christmas Box. This particular time of year is especially hard for me, even though it's been 11 years since Wyatt was born and 3 since Eli was born. It's still hard and I know it will always be. There's just something about Christmas for me. The Last ...

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From Under the Weeping Willow: Preparations

http://fromundertheweepingwillow.blogspot.com/p/things-we-did-to-prepare.html

May the road rise up to meet you. May the wind always be at your back. May the sun shine warm upon your face, and rains fall soft upon your fields. And until we meet again, May God hold you in the palm of His hand. I thought it may be helpful for any families who are still carrying their precious Potter's babies to share some of the things we did to prepare for our sons' arrival while I was still pregnant with them. My husband built both boys' caskets. We lined the insides with a white satiny fabric ...

fromundertheweepingwillow.blogspot.com fromundertheweepingwillow.blogspot.com

From Under the Weeping Willow: Perhaps the Beginning...

http://fromundertheweepingwillow.blogspot.com/2014/05/perhaps-beginning.html

May the road rise up to meet you. May the wind always be at your back. May the sun shine warm upon your face, and rains fall soft upon your fields. And until we meet again, May God hold you in the palm of His hand. Tuesday, May 6, 2014. It is from the AJHG (American Journal of Human Genetics), Volume 94, Issue 2, pages 288-294. Unfortunately I do not have access to the full article but the summary reads, in part,. Mutations. These results demonstrate that mutations of. Are a genetic cause of bilateral re...

fromundertheweepingwillow.blogspot.com fromundertheweepingwillow.blogspot.com

From Under the Weeping Willow: It's That Time of Year Again - Sharing

http://fromundertheweepingwillow.blogspot.com/2014/09/its-that-time-of-year-again-sharing.html

May the road rise up to meet you. May the wind always be at your back. May the sun shine warm upon your face, and rains fall soft upon your fields. And until we meet again, May God hold you in the palm of His hand. Tuesday, September 9, 2014. It's That Time of Year Again - Sharing. So far, two out of the three oldest girls have had a chance to share their brothers. There's bitter with the sweet. We'll see if the last one has a chance and what her choice ends up being. Subscribe to: Post Comments (Atom).

fromundertheweepingwillow.blogspot.com fromundertheweepingwillow.blogspot.com

From Under the Weeping Willow: What Is Potter's Syndrome?

http://fromundertheweepingwillow.blogspot.com/p/what-is-potters-syndrome.html

May the road rise up to meet you. May the wind always be at your back. May the sun shine warm upon your face, and rains fall soft upon your fields. And until we meet again, May God hold you in the palm of His hand. What Is Potter's Syndrome? Babies born with Potter's Syndrome may be stillborn or may survive anywhere from minutes to precious hours after birth. Information obtained from wikipedia and kidneygenes.com. Subscribe to: Posts (Atom). View my complete profile. Click Mushroom for Explanation.

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From Under the Weeping Willow: Eli James

http://fromundertheweepingwillow.blogspot.com/p/eli.html

May the road rise up to meet you. May the wind always be at your back. May the sun shine warm upon your face, and rains fall soft upon your fields. And until we meet again, May God hold you in the palm of His hand. Eli James was born alive and crying at 9:29am Friday morning. We estimate he lived around an hour. He was our smallest baby yet at 5lb 3oz and just the sweetest little thing. We even saw him sucking his thumb briefly. Our girls got to love and snuggle him throughout the day. I have had two mor...

fromundertheweepingwillow.blogspot.com fromundertheweepingwillow.blogspot.com

From Under the Weeping Willow: May 2014

http://fromundertheweepingwillow.blogspot.com/2014_05_01_archive.html

May the road rise up to meet you. May the wind always be at your back. May the sun shine warm upon your face, and rains fall soft upon your fields. And until we meet again, May God hold you in the palm of His hand. Tuesday, May 6, 2014. It is from the AJHG (American Journal of Human Genetics), Volume 94, Issue 2, pages 288-294. Unfortunately I do not have access to the full article but the summary reads, in part,. Mutations. These results demonstrate that mutations of. Are a genetic cause of bilateral re...

fromundertheweepingwillow.blogspot.com fromundertheweepingwillow.blogspot.com

From Under the Weeping Willow: The Hidden Grief

http://fromundertheweepingwillow.blogspot.com/2015/06/the-hidden-grief.html

May the road rise up to meet you. May the wind always be at your back. May the sun shine warm upon your face, and rains fall soft upon your fields. And until we meet again, May God hold you in the palm of His hand. Monday, June 1, 2015. I know these are fleeting moments, but I wish they could last forever. It is a bittersweet experience to hear their names and really look at their photos so often, but it is such a blessing that she says them aloud and cherishes their images as much as I do. The Night Cir...

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From Under the Weeping Willow: Who is it for?

http://fromundertheweepingwillow.blogspot.com/2015/01/who-is-it-for.html

May the road rise up to meet you. May the wind always be at your back. May the sun shine warm upon your face, and rains fall soft upon your fields. And until we meet again, May God hold you in the palm of His hand. Thursday, January 8, 2015. Who is it for? That got me wondering. Why is the angel displayed so publicly? Is it in remembrance of that person or is it to remind others that this family is still suffering her loss? Ever think about these public displays of grief and grieving? Who is it for?

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